Chromosome deletion. Medical search

Actual loss of portion of a chromosome.

The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.

Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.

Any method used for determining the location of and relative distances between genes on a chromosome.

A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.

Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.

In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)

The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.

A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.

Mapping of the KARYOTYPE of a cell.

Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.

The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.

A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.

Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.

The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.

Deletion of sequences of nucleic acids from the genetic material of an individual.

A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.

The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.

Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP C CHROMSOMES of the human chromosome classification.

A specific pair GROUP C CHROMSOMES of the human chromosome classification.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.

Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.

The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

The alignment of CHROMOSOMES at homologous sequences.

Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.

One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).

The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.

A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.

A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.

The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.

A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.

An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.

Aberrant chromosomes with no ends, i.e., circular.

The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.

The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.

Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.

A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.

The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.

A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.

Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.

The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.

Structures within the CELL NUCLEUS of insect cells containing DNA.

The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.

A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

Structures which are contained in or part of CHROMOSOMES.

The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).

The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.

A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).

Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.

In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.

A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).

A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.

The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.

Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.

Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).

A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.

An individual having different alleles at one or more loci regarding a specific character.

Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.

The possession of a third chromosome of any one type in an otherwise diploid cell.

A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.

Established cell cultures that have the potential to propagate indefinitely.

A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.

The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.

The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.

The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.

Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.

Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.

A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.

The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.

An individual in which both alleles at a given locus are identical.

Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.

DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.

Biochemical identification of mutational changes in a nucleotide sequence.

Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.

A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)

Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.

An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.

The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.

Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.

The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.

An aberration in which an extra chromosome or a chromosomal segment is made.

A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.

The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.

The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.

Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.

A species of fruit fly much used in genetics because of the large size of its chromosomes.

The process by which a DNA molecule is duplicated.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.

The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.

Genotypic differences observed among individuals in a population.

Genetic loci associated with a QUANTITATIVE TRAIT.

The functional hereditary units of BACTERIA.

Deoxyribonucleic acid that makes up the genetic material of bacteria.

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.

The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.

Proteins found in any species of bacterium.

Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.

A characteristic symptom complex.

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.

A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.

The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.

The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.

Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)

Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.

Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.

Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.

Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.

The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.

RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.

The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.

The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.

The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.

Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)

Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.

Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)

Genes that influence the PHENOTYPE only in the homozygous state.

The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).

Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.

Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.

The relationships of groups of organisms as reflected by their genetic makeup.

The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.

Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.

The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.

The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.

Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.

The functional hereditary units of FUNGI.

Deoxyribonucleic acid that makes up the genetic material of fungi.

DNA present in neoplastic tissue.

A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.

The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.

Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).

Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.

Genes that are located on the X CHROMOSOME.

Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.

A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.

Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.

Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.

Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.

Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.

Proteins found in any species of fungus.

An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).

The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)

The degree of replication of the chromosome set in the karyotype.

A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.

Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.

The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.

Sexual dimorphism in white campion: complex control of carpel number is revealed by y chromosome deletions. (1/6089)

Sexual dimorphism in the dioecious plant white campion (Silene latifolia = Melandrium album) is under the control of two main regions on the Y chromosome. One such region, encoding the gynoecium-suppressing function (GSF), is responsible for the arrest of carpel initiation in male flowers. To generate chromosomal deletions, we used pollen irradiation in male plants to produce hermaphroditic mutants (bsx mutants) in which carpel development was restored. The mutants resulted from alterations in at least two GSF chromosomal regions, one autosomal and one located on the distal half of the (p)-arm of the Y chromosome. The two mutations affected carpel development independently, each mutation showing incomplete penetrance and variegation, albeit at significantly different levels. During successive meiotic generations, a progressive increase in penetrance and a reduction in variegation levels were observed and quantified at the level of the Y-linked GSF (GSF-Y). Possible mechanisms are proposed to explain the behavior of the bsx mutations: epigenetic regulation or/and second-site mutation of modifier genes. In addition, studies on the inheritance of the hermaphroditic trait showed that, unlike wild-type Y chromosomes, deleted Y chromosomes can be transmitted through both the male and the female lines. Altogether, these findings bring experimental support, on the one hand, to the existence on the Y chromosome of genic meiotic drive function(s) and, on the other hand, to models that consider that dioecy evolved through multiple mutation events. As such, the GSF is actually a system containing more than one locus and whose primary component is located on the Y chromosome. (+info)

Sexual dimorphism in white campion: deletion on the Y chromosome results in a floral asexual phenotype. (2/6089)

White campion is a dioecious plant with heteromorphic X and Y sex chromosomes. In male plants, a filamentous structure replaces the pistil, while in female plants the stamens degenerate early in flower development. Asexual (asx) mutants, cumulating the two developmental defects that characterize the sexual dimorphism in this species, were produced by gamma ray irradiation of pollen and screening in the M1 generation. The mutants harbor a novel type of mutation affecting an early function in sporogenous/parietal cell differentiation within the anther. The function is called stamen-promoting function (SPF). The mutants are shown to result from interstitial deletions on the Y chromosome. We present evidence that such deletions tentatively cover the central domain on the (p)-arm of the Y chromosome (Y2 region). By comparing stamen development in wild-type female and asx mutant flowers we show that they share the same block in anther development, which results in the production of vestigial anthers. The data suggest that the SPF, a key function(s) controlling the sporogenous/parietal specialization in premeiotic anthers, is genuinely missing in females (XX constitution). We argue that this is the earliest function in the male program that is Y-linked and is likely responsible for "male dimorphism" (sexual dimorphism in the third floral whorl) in white campion. More generally, the reported results improve our knowledge of the structural and functional organization of the Y chromosome and favor the view that sex determination in this species results primarily from a trigger signal on the Y chromosome (Y1 region) that suppresses female development. The default state is therefore the ancestral hermaphroditic state. (+info)

Microdeletion 22q11 and oesophageal atresia. (3/6089)

Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion. (+info)

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. (4/6089)

Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome in humans. It occurs with an estimated frequency of 1 in 4, 000 live births. Most cases occur sporadically, indicating that the deletion is recurrent in the population. More than 90% of patients with VCFS and a 22q11 deletion have a similar 3-Mb hemizygous deletion, suggesting that sequences at the breakpoints confer susceptibility to rearrangements. To define the region containing the chromosome breakpoints, we constructed an 8-kb-resolution physical map. We identified a low-copy repeat in the vicinity of both breakpoints. A set of genetic markers were integrated into the physical map to determine whether the deletions occur within the repeat. Haplotype analysis with genetic markers that flank the repeats showed that most patients with VCFS had deletion breakpoints in the repeat. Within the repeat is a 200-kb duplication of sequences, including a tandem repeat of genes/pseudogenes, surrounding the breakpoints. The genes in the repeat are GGT, BCRL, V7-rel, POM121-like, and GGT-rel. Physical mapping and genomic fingerprint analysis showed that the repeats are virtually identical in the 200-kb region, suggesting that the deletion is mediated by homologous recombination. Examination of two three-generation families showed that meiotic intrachromosomal recombination mediated the deletion. (+info)

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. (5/6089)

Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart malformations. Other major manifestations include microcephaly, intrauterine growth retardation, mental retardation, and a characteristic hyperactive, impulsive behavior. We studied genotype-phenotype correlations in nine unrelated patients with a de novo del8p, by using the combination of classic cytogenetics, FISH, and the analysis of polymorphic DNA markers. With the exception of one large terminal deletion, all deletions were interstitial. In five patients, a commonly deleted region of approximately 6 Mb was present, with breakpoints clustering in the same regions. One patient without a heart defect or microcephaly but with mild mental retardation and characteristic behavior had a smaller deletion within this commonly deleted region. Two patients without a heart defect had a more proximal interstitial deletion that did not overlap with the commonly deleted region. Taken together, these data allowed us to define the critical deletion regions for the major features of a del8p. (+info)

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. (6/6089)

A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations. (+info)

Renal function studies in an infant with 4p (-) syndrome. (7/6089)

An infant with the syndrome of deletion of the short arm of chromosome 4 is described. In addition, this child had renal insufficiency, which is found rarely in association with the 4p(--) syndrome. Previous reports of this syndrome have described only isolated gross structural abnormalites of the urinary tract. In the case discussed here, we present clinical and functional data which indicate that this patient had bilateral renal dysplasia. (+info)

A case of ring chromosome. (8/6089)

A girl with a G22 ring chromosome is described. There are few physical abnormalities, performance quotient is in the low normal range but verbal skills are much retarded. (+info)

Deletion of the MBD5 gene has been identified in all individuals affected by a microdeletion syndrome characterized by ... Cite this: Deletion on Chromosome 2 Linked to Epilepsy, Autism - Medscape - Nov 30, 2011. ... In contrast, they found no deletions of the 2q23.1 segment, the full MBD5 locus, or any MBD5 coding exons in 7878 control ... Regardless of the size of the deletion, the MBD5 gene is the primary contributor to the core features of the syndrome, she ...

https://www.medscape.com/viewarticle/754462

Major chromosome abnormalities are present in 0.65% of all neonates. Fluorescent in situ hybridization [‎FISH]‎ is useful in ...

https://extranet.who.int/iris/restricted/browse?authority=Chromosome+Deletion&type=mesh

40 cases have been described with interstitial deletions involving the 4p15 ... Interstitial deletion of the short arm of chromosome 4 can lead to several clinical syndromes. Deletions which encompass the ... Previously interstitial deletions of chromosome 4p have only been rarely described. Deletions encompassing the 4p15 region ... A boy with 13.34-Mb interstitial deletion of chromosome 4p15: A new case report and review of the literature : Medicine. ...

https://journals.lww.com/md-journal/Fulltext/2017/12220/A_boy_with_13_34_Mb_interstitial_deletion_of.82.aspx

... the complete deletion was mapped to chromosome 6 (60,678,870-61,037,354), a slightly smaller deletion region than that ... Given this deletion involving several genes, the Rab27a/b DKO mouse line should be used with caution or with appropriate back- ... PCR of genomic DNA from Rab27a/b DKO mice demonstrated at least partial deletion of the Snca locus using primers targeted to ... kb deletion spanning the region encoding for alpha-synuclein (αsyn) and multimerin1 (Mmrn1) in the Rab27a/Rab27b double ...

https://www.nature.com/articles/s41598-022-13557-8?error=cookies_not_supported&code=0f5b0737-812c-4047-b2ae-53a75c33f4c2

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder that is associated with cognitive impairments and ... Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is a neurogenetic disorder that is associated with cognitive impairments and ... Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder that is associated with cognitive impairments and ... Individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS) represent a population with a genetically conferred risk for ...

https://www.frontiersin.org/articles/10.3389/fpsyt.2013.00081/full

... and to the molecular and cellular pathways specifically altered by chromosome 1p loss.Keywords: chromosome 1p, colon ... Chromosome arm 1p appears to be one of the “hot spots” in the non-neoplastic mucosa that, when deleted, is ... The 1p deletion-associated colon carcinogenesis pathways are reviewed at the molecular and cellular levels. Sporadic colon ... Chromosome arm 1p contains genes associated with DNA repair, spindle checkpoint function, apoptosis, multiple microRNAs, the ...

https://www.dovepress.com/article_metric.php?article_id=7333

Find symptoms and other information about Chromosome Xp deletion. ...

https://rarediseases.info.nih.gov/diseases/10978/chromosome-xp-deletion/

Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe ... Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. ... Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. ...

https://jmg.bmj.com/content/30/10/822

Impact of Y Chromosome Deletions on ICSI Outcome ... Impact of Y Chromosome Deletions on ICSI Outcome. Study finds ... It was the latter group which first identified deletions on the Y chromosome of some men with sperm abnormalities-and which ... The aim of the study was to identify the extent of Y chromosome deletions and their impact. ... have deletions on the Y chromosome. The study was undertaken by Dr. Sherman Silber at St. Lukes Hospital in St. Louis, in ...

https://www.infertile.com/infertility-news/impact-y-chromosome-deletions-icsi-outcome/

... is a genetic disorder due to a micro deletion on chromosome 22q11.2. VCFS is associated with abnormalities in brain structure ... 22q11.2 deletion syndrome (22q11.2DS), also known as velocardiofacial syndrome (VCFS) or DiGeorge Syndrome, ... Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). ... Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). ...

https://www.psych.ox.ac.uk/publications/139238

Chromosome 22 is the second smallest human chromosome, spanning more than 51 million DNA building blocks (base pairs) and ... arm of chromosome 22. A ring chromosome 22 can also cause 22q13.3 deletion syndrome. A ring chromosome is a circular structure ... chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a ... Chromosome 22 was the first human chromosome to be fully sequenced.. Identifying genes on each chromosome is an active area of ...

https://medlineplus.gov/genetics/chromosome/22/

Cher, ML, Ito, T, Weidner, N, Carroll, PR & Jensen, RH 1995, Mapping of regions of physical deletion on chromosome 16q in ... T1 - Mapping of regions of physical deletion on chromosome 16q in prostate cancer cells by fluorescence in situ hybridization ( ... Mapping of regions of physical deletion on chromosome 16q in prostate cancer cells by fluorescence in situ hybridization (FISH ... Mapping of regions of physical deletion on chromosome 16q in prostate cancer cells by fluorescence in situ hybridization (FISH ...

https://kyushu-u.pure.elsevier.com/en/publications/mapping-of-regions-of-physical-deletion-on-chromosome-16q-in-pros

T1 - Identification of Paternal Uniparental Disomy on Chromosome 22 and a De-novo Deletion on Chromosome 18 in Individuals with ... Identification of Paternal Uniparental Disomy on Chromosome 22 and a De-novo Deletion on Chromosome 18 in Individuals with ... Identification of Paternal Uniparental Disomy on Chromosome 22 and a De-novo Deletion on Chromosome 18 in Individuals with ... title = "Identification of Paternal Uniparental Disomy on Chromosome 22 and a De-novo Deletion on Chromosome 18 in Individuals ...

https://discovery.dundee.ac.uk/en/publications/identification-of-paternal-uniparental-disomy-on-chromosome-22-an

... the 2C gametocidal chromosome from Aegilops cylindrica was used to develop a set of 113 deletion lines for chromosome 3D in the ... Home New publication: Development of deletion lines for chromosome 3D of bread wheat ... New publication: Development of deletion lines for chromosome 3D of bread wheat. ... Eighty-four markers were used to show that the deletions evenly covered chromosome 3D and ranged from 6.5 to 357 Mb. This new ...

https://olomouc.ueb.cas.cz/en/news/new-publication-development-of-deletion-lines-for

Our patient had a deletion in chromosome 11q13.2-q13.3 on the array-CGH analysis. The deletion included a 2.75-Mb region ... The chromosome 11q13 deletion syndrome, the otodental syndrome or oculo-oto-dental syndrome, is a rare but severe autosomal ... Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The ... The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these ...

https://www.e-cep.org/journal/view.php?number=20125553415

Mason has a long list of medical complexities including a double chromosome deletion. Despite his many medical challenges, he ... Fear for Child with Double Chromosome Deletion. On his 11th chromosome, one of the deletions is a whole gene deletion called ... Kaitlin: Chromosome Deletion. Jan 31, 2018 , Auditory neuropathy, Chromosome Abnormality, Congenital Heart Defect, Congestive ... Complications of Parenting a Child with a Chromosome Deletion. Kaitlin and her husband have not slept in the same bed since ...

https://orangesocks.org/kaitlin-chromosome-deletion-chd-neurological-differences

CHROMOSOME 16p13.2 DELETION SYNDROME description, symptoms and related genes. Get the complete information in our medical ...

https://www.mendelian.co/diseases/chromosome-16p13-2-deletion-syndrome

Chromosome. 3q deletion. is a chromosome abnormality. that occurs when there is a missing copy of the genetic material. located ... PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 3q deletion. Click on ... Genetics Home Reference (GHR) contains information on Chromosome 3q deletion. This website is maintained by the National ... Features that often occur in people with chromosome 3q deletion include developmental delay. , intellectual disability. , ...

https://www.raremedicalnews.com/rarediseases/chromosome-3q-deletion/

PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 11p deletion. Click on ... MedlinePlus Genetics contains information on Chromosome 11p deletion. This website is maintained by the National Library of ... Unique - Rare Chromosome Disorder Support Group. G1, The Stables Station Road West Surrey RH8 9EE United Kingdom. Telephone: + ... Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal ...

https://www.rareophthalmologynews.com/rarediseases/chromosome-11p-deletion/

Chromosome. 19q13.11 deletion. syndrome. is a chromosome abnormality. that occurs when there is a missing (deleted) copy of ... an unusually small head), hypospadias, and skin abnormalities.[1][2] To date, all cases of chromosome 19q13.11 deletion ... Genetics Home Reference (GHR) contains information on Chromosome 19q13.11 deletion syndrome. This website is maintained by the ... PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 19q13.11 deletion ...

https://www.rarepediatricsnews.com/rarediseases/chromosome-19q13-11-deletion-syndrome/

The cancer literature often refers to the deletion of certain sections of a chromosome (e.g. ... Deletions can occur in any part of any chromosome. When there is just one break in the chromosome, the deletion is called a ... When there are two breaks in the chromosome, the deletion is called an interstitial deletion because a piece of chromosome ... Yes, there are two different types of chromosomes sex chromosomes and autosomal chromosomes. The sex chromosomes are the X and ...

https://gm.dualjuridik.org/12554-chromosome-deletion-notation-in-cancers.html

https://www.rareneurologynews.com/rarediseases/chromosome-19q13-11-deletion-syndrome/

Partial deletion of the long arm chromosome 11 in Jacobsen syndrome. Indian Journal of Pediatrics. 1986 Jan-Feb; 53(1): 123-6. ...

https://imsear.searo.who.int/handle/123456789/79022?locale=fr

Chromosome. 1q41-q42 deletion. syndrome. is characterized by a small, but variable deletion in a particular place on the long ... Deletion of the distal long arm of chromosome 1: a definable syndrome. American Journal of Medical Genetics. December 1985; 22( ... PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 1q41-q42 deletion ... Unique - Rare Chromosome Disorder Support Group. G1, The Stables Station Road West Surrey RH8 9EE United Kingdom. Telephone: + ...

https://www.rarecardiologynews.com/rarediseases/chromosome-1q41-q42-deletion-syndrome/

Chromosome 17 and 19 deletion. *Chromosome 18q deletion. *Cognitive impairment. *Congenital hydrocephalus ...

http://www.cdc.gov/coronavirus/2019-ncov/hcp/clinical-care/underlyingconditions.html

The future is so totally uncertain with chromosome deletions. I try and tell Mom it will be ok, that we need to live in the ...

https://www.chromosome3andme.com/wyatts-blog/archives/02-2014

N2 - Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of ... AB - Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of ... Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of ... abstract = "Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a ...

https://ohsu.pure.elsevier.com/en/publications/increased-incidence-and-size-of-cavum-septum-pellucidum-in-childr-2

Aggressive juvenile polyposis in children with chromosome 10q23 deletion. World J Gastroenterol. 2013; 19(14):2286-92. ...

https://researchers.childrensmercy.org/display/258553

Chromosome Deletion [‎1]‎. Chromosomes [‎8]‎. Chromosomes, Human, X [‎1]‎. Chromosomes, Human, Y [‎1]‎. ...

https://apps.who.int/iris/browse?rpp=20&offset=1039&etal=-1&sort_by=-1&type=mesh&starts_with_previous=C&order=ASC

The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 22. (medlineplus.gov)
9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. (dualjuridik.org)
Deletions can be caused by errors in chromosomal crossover during meiosis , which causes several serious genetic diseases . (wikipedia.org)
Chromosomal disorders , where chromosomes (or parts of chromosomes) are missing or changed. (childrens.com)
Genetic disorders can range from a defect in a single base mutation in the DNA of one gene to chromosomal abnormalities that involve deletion or addition of entire chromosomes or sets of chromosomes. (emedicinehealth.com)
As a major form of genomic instability, chromosomal instability comprises aberrant chromosome numbers (i.e., aneuploidy or polyploidy) and structural changes in chromosomes. (frontiersin.org)
Imatinib has a 95% response rate in patients with chronic myeloid leukemia (caused by a chromosomal rearrangement called the Philadelphia chromosome) and extends quality-adjusted life . (cdc.gov)
The DrosDel deletion collection: a Drosophila genomewide chromosomal deficiency resource. (kit.jp)
Cri-du-chat syndrome: chromosomal deletion causing it is 5p() What's another name for a cat that's five letters long and starts with a P? (neetexambooster.in)

Homologous recombination between areas of concentrated repeated sequences frequently creates deletions and duplications. (pfeiffertheface.com)
Most of these deletions or duplications are not recognized on standard karyotype. (academie-medecine.fr)
Chromosome abnormalities usually result from a problem with cell division and arise because of duplications or absences of entire chromosomes or pieces of chromosomes. (emedicinehealth.com)
For deletions/duplications extending beyond the reference transcript resp. (lovd.nl)

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder that is associated with cognitive impairments and significantly elevated risk for developing schizophrenia. (frontiersin.org)
Individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS) represent a population with a genetically conferred risk for developing schizophrenia that is significantly increased relative to the general population. (frontiersin.org)
Chromosome 22q11.2DS results from a 1.5- to 3-megabase microdeletion on the long (q) arm of chromosome 22 ( 19 , 20 ) and occurs in approximately 1 in 2000-4000 live births ( 21 , 22 ). (frontiersin.org)
Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). (ox.ac.uk)
OBJECTIVES: 22q11.2 deletion syndrome (22q11.2DS), also known as velocardiofacial syndrome (VCFS) or DiGeorge Syndrome, is a genetic disorder due to a micro deletion on chromosome 22q11.2. (ox.ac.uk)
22q11.2 deletion syndrome is a disorder involving heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, low calcium levels, and an increased risk of behavioral problems and mental illness such as schizophrenia (described below). (medlineplus.gov)
Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. (medlineplus.gov)
The loss of a particular gene, TBX1 , is thought to be responsible for many of the physical features characteristic of 22q11.2 deletion syndrome. (medlineplus.gov)
Additional genes in the deleted region likely contribute to the varied signs and symptoms of 22q11.2 deletion syndrome. (medlineplus.gov)
22q11.2 duplication is caused by an extra copy of some genetic material at position q11.2 on chromosome 22. (medlineplus.gov)
This sequence is the same one that is missing in 22q11.2 deletion syndrome (described above). (medlineplus.gov)
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of impairments in children including greater risk for psychiatric ailments in adulthood. (elsevier.com)
Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. (bvsalud.org)

Major chromosome abnormalities are present in 0.65% of all neonates. (who.int)
It was the latter group which first identified deletions on the Y chromosome of some men with sperm abnormalities-and which first raised concerns over inherited infertility in male factor ICSI cases. (infertile.com)
Micro-deletion is usually found in children with physical abnormalities. (wikipedia.org)
(A) A tumour karyotype in a male with loss of the Y chromosome, (B) Prader-Willi Syndrome i.e. deletion in the 15q11-q12 region and (C) an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities. (wikipedia.org)
Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. (wikipedia.org)
The International System for Human Cytogenomic Nomenclature (ISCN) is an international standard for human chromosome nomenclature , which includes band names, symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. (wikipedia.org)
Since that year, rarer autosomal dominant disease forms with variable penetrance with or without chromosome 9 abnormalities have also been described. (medscape.com)

A rearrangement (translocation) of genetic material between chromosomes 9 and 22 causes a type of cancer of blood-forming cells called chronic myeloid leukemia. (medlineplus.gov)
The translocation involved in this condition, written as t(9;22), fuses part of the ABL1 gene from chromosome 9 with part of the BCR gene from chromosome 22, creating an abnormal fusion gene called BCR-ABL1 . (medlineplus.gov)
Homozygous sterile deletion chromosome balanced by GFP-marked translocation. (umn.edu)
Wrongful Birth/Birth Defect: Miami child delivered with severe developmental delays due to unusual micro deletion and translocation of genetic material at tip of chromosome. (needleellenberg.com)
We actually can cure AIDS and cancer with RA SHIELD, since these two diseases are caused by the failure in crystallization of Chromosomes due to failure of Wave Optics during cell division (so-called translocation, transposition, deletions, and other structural defects of chromosomes). (wordpress.com)

The abnormal chromosome 22, containing a piece of chromosome 9 and the fusion gene, is commonly called the Philadelphia chromosome. (medlineplus.gov)
Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. (wikipedia.org)
When a chromosome breaks, a part of it is deleted or lost, the missing piece of chromosome is referred to as deletion or a deficiency. (wikipedia.org)
Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication ) of a small piece of chromosome 17 in each cell. (pfeiffertheface.com)
17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. (pfeiffertheface.com)

November 30, 2011 (Montreal, Quebec) - Partial or complete deletion of a specific gene, the MBD5 gene, on a specific region of chromosome 2 has been identified in every single individual affected by a microdeletion syndrome characterized by intellectual disability, epilepsy, and autism spectrum disorder (ASD). (medscape.com)
Sarah Elsea, PhD, associate professor of pediatrics and human and molecular genetics at the Virginia Commonwealth University School of Medicine in Richmond, and colleagues assembled a collaborative team of clinical diagnostic laboratories and research facilities in Canada, Europe, and the United States to characterize the genetic content and phenotypic outcomes associated with a spectrum of genetic alterations with the 2q23.1 deletion syndrome region. (medscape.com)
Regardless of the size of the deletion, the MBD5 gene is the primary contributor to the core features of the syndrome, she added. (medscape.com)
Genetic and phenotypic analyses suggest that the majority of individuals affected by the 2q23.1 deletion syndrome exhibit autistic-like behaviors. (medscape.com)
Deletions encompassing the 4p15 region result in a distinct clinical syndrome, different from Wolf-Hirschhorn syndrome (WHS, Online Mendelian Inheritance in Man 194190). (lww.com)
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. (bmj.com)
22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is caused by a deletion near the end of the long (q) arm of chromosome 22. (medlineplus.gov)
A ring chromosome 22 can also cause 22q13.3 deletion syndrome. (medlineplus.gov)
The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes at the end of chromosome 22. (medlineplus.gov)
The loss of a particular gene, SHANK3 , is thought to be responsible for many of the characteristic features of 22q13.3 deletion syndrome, such as developmental delay, intellectual disability, and absent or severely delayed speech. (medlineplus.gov)
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. (e-cep.org)
The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. (e-cep.org)
The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. (e-cep.org)
The chromosome 11q13 deletion syndrome, the otodental syndrome or oculo-oto-dental syndrome, is a rare but severe autosomal dominant craniofacial anomaly 1) . (e-cep.org)
Almenrader N, Passariello M, Coccetti B, Pietropaoli P. Anesthesia for a child with deletion 3q syndrome. (raremedicalnews.com)
Chromosome 19q13.11 deletion syndrome is a chromosome abnormality that occurs when there is a missing ( deleted ) copy of genetic material on chromosome 19 at a location designated q13.11. (rarepediatricsnews.com)
[1] [2] To date, all cases of chromosome 19q13.11 deletion syndrome appear to be sporadic and diagnosed in people with no family history of the condition. (rarepediatricsnews.com)
Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1 , usually spanning several genes . (rarecardiologynews.com)
IMSEAR at SEARO: Partial deletion of the long arm chromosome 11 in Jacobsen syndrome. (who.int)
[9] Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome. (wikipedia.org)
[10] Some syndromes, including Angelman syndrome and Prader-Willi syndrome, are associated with both microdeletions and genomic imprinting, meaning that same microdeletion can cause two different syndromes depending on which parent the deletion came from. (wikipedia.org)
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. (bvsalud.org)
Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. (bvsalud.org)
What is 17q12 deletion syndrome? (pfeiffertheface.com)
17q12 deletion syndrome is a chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. (pfeiffertheface.com)
Deletion of a small amount of genetic material (a microdeletion) on chromosome 17 can cause Koolen-de Vries syndrome. (pfeiffertheface.com)
How common is 17q12 deletion syndrome? (pfeiffertheface.com)
The worldwide prevalence of 17q12 deletion syndrome is unknown, although the condition appears to be rare. (pfeiffertheface.com)
One study estimated that 17q12 deletion syndrome occurs in 1 in 14,500 people in Iceland. (pfeiffertheface.com)
2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual disability or learning disabilities. (pfeiffertheface.com)
One example of a rare genetic disorder of duplication is called Pallister Killian syndrome, where part of the #12 chromosome is duplicated. (pfeiffertheface.com)
The signs and symptoms of 17q12 deletion syndrome vary widely, even among affected members of the same family. (pfeiffertheface.com)
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. (genome.gov)
Wolf-Hirschhorn syndrome is caused by a missing piece (deletion) of genetic material near the end of the short (p) arm of chromosome 4 . (verywellhealth.com)
Williams Syndrome (WS) is a genetic disorder caused by the deletion of multiple genes on chromosome 7. (bvsalud.org)

Aggressive juvenile polyposis in children with chromosome 10q23 deletion. (childrensmercy.org)

The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (frontiersin.org)
ZFNs and TALENs induce double-strand breaks at desired loci that can be repaired by error-prone non-homologous end-joining to yield small insertions and deletions (indels) at the break sites. (bioseek.eu)
However, in canines, we see genetic insertions instead of the deletions found in humans. (experiment.com)
After successful completion, you will find supporting reads stratified by deletions, insertions, and rearrangements ({output_prefix}.deletion.sorted.bed.gz, {output_prefix}.insertion.sorted.bed.gz, and {output_prefix}.rearrangement.sorted.bedpe.gz) and their indexes (.tbi files). (pypi.org)

Fine mapping of the distal short arm of the human X chromosome using X/Y translocations. (wikidata.org)
Chromosome translocations and cosmic sources of ionizing radiation: the NIOSH-NCI airline pilot biomarker study. (cdc.gov)

Individuals with very large deletions in the region are more severely affected with additional manifestations. (medscape.com)
large deletions are usually fatal - there are always variations based on which genes are lost. (wikipedia.org)
Large deletions and rearrangements of the plant's genome, which can involve thousands of base units of DNA, have been observed following CRISPR gene editing. (gmwatch.org)
Of family members in this research who presented with epilepsy, 70-80% had large deletions in the NA gene, now known as VPS13A , on chromosome 9. (medscape.com)

A boy with 13.34-Mb interstitial deletion of chromosome 4p15. (lww.com)
In this study, we report a 13-Mb interstitial deletion of 4p15.1-15.31 in a patient with mild psychomotor retardation and minor dysmorphic features. (lww.com)
Intercalary/interstitial deletion - a deletion that occurs from the interior of a chromosome. (wikipedia.org)

This new genetic stock will be useful for positional cloning of genes on chromosome 3D, especially for Ph2 affecting homoeologous pairing in bread wheat. (cas.cz)
An extra copy of a stretch of genes on chromosome 22 may contribute to autism, according to the first study to carefully characterize a large group of individuals who carry this duplication1. (pfeiffertheface.com)

The team also found that partial or complete deletion of the same gene was associated with haploinsufficiency of messenger RNA expression, "meaning individuals with this microdeletion disorder have only 1 functioning copy of the gene, so there is only 50% function. (medscape.com)
Microdeletion - a relatively small amount of deletion (up to 5Mb that could include a dozen genes). (wikipedia.org)

For example, 5q is the long arm of chromosome 5, and Xp is the short arm of the X chromosome. (dualjuridik.org)
For example: 14q21 represents position 21 on the long arm of chromosome 14. (dualjuridik.org)
Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13, which confers a prezygotic predisposition to tumour development. (elsevier.com)

Chromosome 3q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 3 . (raremedicalnews.com)
Approximately 50% of patients have a detectable cytogenetic abnormality, most commonly a deletion of all or part of chromosome 5 or 7, or trisomy 8. (cancer.gov)

Genetics Home Reference (GHR) contains information on Chromosome 3q deletion. (raremedicalnews.com)
MedlinePlus Genetics contains information on Chromosome 11p deletion. (rareophthalmologynews.com)
Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome. (wikidata.org)
Hirschhorn, K , Cooper, HL & Firschein, IL 1965, ' Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion ', Human Genetics , vol. 1, no. 5, pp. 479-482. (mssm.edu)

People with ring chromosome 22 have one copy of this abnormal chromosome in some or all of their cells. (medlineplus.gov)
If the break point on the long arm is at chromosome position 22q13.3, people with ring chromosome 22 will experience similar signs and symptoms as those with a simple deletion. (medlineplus.gov)

Some medium-sized deletions lead to recognizable human disorders, e.g. (wikipedia.org)
Deletions are responsible for an array of genetic disorders, including some cases of male infertility , two thirds of cases of Duchenne muscular dystrophy , [1] and two thirds of cases of cystic fibrosis (those caused by ΔF508 ). (wikipedia.org)
X-linked disorders refer to diseases for which the defective gene is present on the female (X) chromosome. (emedicinehealth.com)
Donate now to increase awareness and research into chromosome disorders. (chromodisorder.org)
Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. (chromodisorder.org)
Help us in our efforts to raise awareness of rare chromosome disorders by visiting our online store. (chromodisorder.org)

The mutant showed an increased frequency of deletions but not of mutations. (nih.gov)
This can be determined using the Revised International Prognostic Scoring System (IPSS-R) in addition to evaluation of a patient's performance status, symptoms, care goals, cytopenias, and molecular genetic testing (eg, for 5q31 deletion or SF3B1 mutations). (medscape.com)
Mutations/deletions in separate genes, each of which alone causes a minimal phenotype, but when combined in the same cell results in a more severe fitness defect or lethality under a given condition. (thebiogrid.org)

Δ ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. (wikipedia.org)
Deletion of a number of pairs that is not evenly divisible by three will lead to a frameshift mutation , causing all of the codons occurring after the deletion to be read incorrectly during translation , producing a severely altered and potentially nonfunctional protein . (wikipedia.org)
In 2001, a deletion mutation in the gene (now known as VPS13A) localized to chromosome band 9q21 was identified as the site for the defect generating the autosomal recessive form of NA. (medscape.com)
Thus, patients with NA typically carrying this deletion mutation have a deficiency or even absence of chorein. (medscape.com)

40 cases with 4p15 deletions have been reported and in approximately 4 cases the extent of the deletion was ascertained through array comparative genomic hybridization. (lww.com)
PCR of genomic DNA from Rab27a/b DKO mice demonstrated at least partial deletion of the Snca locus using primers targeted to exon 4 and exon 6. (nature.com)
Using whole genomic sequencing, the complete deletion was mapped to chromosome 6 (60,678,870-61,037,354), a slightly smaller deletion region than that previously reported in the C57BL/6J substrain maintained by Envigo. (nature.com)
In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. (e-cep.org)
The array-comparative genomic hybridization (CGH) analysis revealed a deletion in chromosome 11q13.2-q13.3. (e-cep.org)
Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence. (lovd.nl)

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). (wikidata.org)
For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop . (wikipedia.org)
Deletion of exon 2 of TMLHE causes enzyme deficiency, resulting in increased substrate concentration (6-N-trimethyllysine) and decreased product levels (3-hydroxy-6-N-trimethyllysine and γ-butyrobetaine) in plasma and urine. (uwo.ca)

These include the Chromosome Disorder Outreach group in Boca Raton, Florida and the 4P Support Group . (verywellhealth.com)
Chromosome Disorder Outreach is asked frequently how to learn more about the genes associated with human diseases involved in any chromosome disorder. (chromodisorder.org)
Chromosome Disorder Outreach is a 501(c)(3) non-profit organization. (chromodisorder.org)

The most common terminal deletions are 1p36 monosomy and 22q13 deletion. (academie-medecine.fr)

It shows 22 homologous autosomal chromosome pairs as well as both the female (XX) and male (XY) versions of the two sex chromosomes . (wikipedia.org)
2. After analyzing the karyotype of a short statured round headed person with mental retardation, a general physician noticed an addition of autosomal chromosome. (bankofbiology.com)

Deletion of the short arm of chromosome 1 is among the most recurrent cytogenetic alterations found in neuroblastoma and has been associated with short survival. (archives-ouvertes.fr)
Often, these alterations happen due to errors during cell division when chromosomes align (Figure 1). (pfeiffertheface.com)

Depending on the size of the deletion, the severity of these features varies," she explained. (medscape.com)
The size of the deletion varies among affected individuals. (medlineplus.gov)

Amplification and deletion of mouse chromosome 4 in lung cancer. (cdc.gov)
Amplification of mouse chromosome 4 in chemically induced and invasive mouse lung adenocarcinoma. (cdc.gov)
Mouse chromosome 1 and 15 were amplified in 90% of the high-invasive cell strains. (cdc.gov)

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype. (raremedicalnews.com)
X-linked recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder. (raremedicalnews.com)

The deletion occurs near the middle of the chromosome at a location designated as q11.2. (medlineplus.gov)
A ring chromosome is a circular structure that occurs when a chromosome breaks in two places, the tips of the chromosome are lost, and the broken ends fuse together. (medlineplus.gov)
The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. (dualjuridik.org)
Terminal deletion - a deletion that occurs towards the end of a chromosome. (wikipedia.org)
The duplication occurs on the short (p) arm of the chromosome at a position designated p11. (pfeiffertheface.com)
The deletion occurs on the long (q) arm of the chromosome at a position designated q12. (pfeiffertheface.com)

The homologous linkage groups on human chromosomes 9p2I, 1p36, 9q and 8q are altered in asbestos -induced human lung adenocarcinoma. (cdc.gov)

Humans normally have 46 chromosomes (23 pairs) in each cell. (medlineplus.gov)
Deletions are representative of eukaryotic organisms, including humans and not in prokaryotic organisms, such as bacteria. (wikipedia.org)

Recent work suggests that some deletions of highly conserved sequences (CONDELs) may be responsible for the evolutionary differences present among closely related species. (wikipedia.org)
These results indicate that MutL (i) determines effective DNA homology in recombination processes and (ii) fine tunes the process of deletion formation involving repeated, diverged DNA sequences. (nih.gov)
Recently published research papers are now demonstrating how Human cells can rewrite RNA sequences into DNA Chromosomes. (ethealing.com)

Even though he has a genetic disorder, chromosome deletion , Mason hasn't been given a specific diagnosis. (orangesocks.org)

On his 11th chromosome , one of the deletions is a whole gene deletion called the SDHD gene. (orangesocks.org)

Features that often occur in people with chromosome 3q deletion include developmental delay , intellectual disability , behavioral problems, and distinctive facial features. (raremedicalnews.com)

or other CHROMOSOME BREAKAGE related aberrations. (curehunter.com)
0.001) of chromosome fragility, as well as other numerical and structural aberrations in breast cancer patients when compared to the control group. (curehunter.com)

encoding the methyl-CpG-binding domain 5 protein, is a clear causal locus within the 2q23.1 deletion region and represents a previously unrecognized contributor to the genetic etiology of ASD," they report. (medscape.com)
In contrast, they found no deletions of the 2q23.1 segment, the full MBD5 locus, or any MBD5 coding exons in 7878 control subjects with no psychiatric diagnosis. (medscape.com)
Francisella tularensis, a potent human pathogen and a pu- needed, not only because of their use in clinical and public tative bioterrorist agent, we combined analysis of insertion- health work but also because of a rising concern associated deletion (indel) markers with multiple-locus variable-number with risks for bioterrorism ( 4 , 8 ). (cdc.gov)
As offspring of deletion carriers have a 50% risk of inheriting the predisposition locus it is important to identify deletion carriers. (elsevier.com)
This is the first example of a transcriptional activator that accumulates transiently and reversibly on a chromosome-specific heterochromatic locus. (rupress.org)
Individuo que sólo tiene un alelo en un locus determinado debido a que ha perdido el otro alelo a través de una mutación (por ejemplo, DELECIÓN CROMOSÓMICA). (bvsalud.org)

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. (wikidata.org)

TMLHE maps to the X chromosome and encodes the first enzyme in carnitine biosynthesis, 6-N-trimethyllysine dioxygenase. (uwo.ca)

Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 showed a deletion within chromosome 22q11 in all cases. (bmj.com)

What chromosome is associated with autism? (pfeiffertheface.com)
Two new studies of families carrying glitches on a region of chromosome 16, which has been strongly associated with autism, reveal the wide range of effects caused by the variant and narrow the list of possible culprit genes. (spectrumnews.org)
We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene in a proband with autism. (uwo.ca)

This technique will be of particular interest in the pretherapeutic analysis of 1p deletions in small tumor samples obtained by fine-needle aspirates of the primary tumor. (archives-ouvertes.fr)
It should also enable retrospective studies from paraffin-embedded tumor fragments to be made and provide information for the analysis of tumor heterogeneity in neuroblastoma and in other tumors with 1p deletions. (archives-ouvertes.fr)
1 Caveolin-1 is indeed a "tumor suppressor" whose reduction/deletion in cells would provide growth advantages and expedite tumorigenesis. (sputnic-group.ru)

Analysis revealed deletion of DNA fragments with collinear gene order on chromosomes 1A, 2D, 5A, 5B, 5D and 7D of Chara HII mutants. (globalrust.org)

Chromosome 22 is the second smallest human chromosome, spanning more than 51 million DNA building blocks (base pairs) and representing between 1.5 and 2 percent of the total DNA in cells. (medlineplus.gov)
In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. (medlineplus.gov)
Chromosome 22 was the first human chromosome to be fully sequenced. (medlineplus.gov)
The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). (emedicinehealth.com)
This protein has the identical amino acid coding (sequence) found in Human DNA-Chromosome 8. (ethealing.com)
Human DNA gene sequencing has long been known for Chromosome 8, commonly known as the God Gene for its specific effect on Human Behaviors (see definition in next section). (ethealing.com)

Deletions that do not occur in multiples of three bases can cause a frameshift by changing the 3-nucleotide protein reading frame of the genetic sequence. (wikipedia.org)
The PCR test template (gene sequence) for the "lab test" also is the same as that found on Chromosome 8, and it has also been found in Swabs used to collect nasal cell samples. (ethealing.com)

Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. (bvsalud.org)
Duplication of the proximal region of chromosome 4 occurred in 22% of the spontaneously-occurring high-invasive cells strains and 83% of the chemically-induced high-invasive cell culrures. (cdc.gov)

3. Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P, Turpin R. [3 cases of partial deletion of the short arm of a 5 chromosome]. (bvsalud.org)

1. Diagrammatic representation of chromosome map of Drosophila is given below. (bankofbiology.com)

Eighty-four markers were used to show that the deletions evenly covered chromosome 3D and ranged from 6.5 to 357 Mb. (cas.cz)
In contrast, a deletion that is evenly divisible by three is called an in-frame deletion. (wikipedia.org)

Survey of the pathogen population in the USA indicates that the deletion of the AVR-Pita allele in some "race-shift" isolates of M. grisea can defeat protection provided by Pi-ta. (usda.gov)

40 cases have been described with interstitial deletions involving the 4p15 region. (lww.com)
We report an incidental 358.5 kb deletion spanning the region encoding for alpha-synuclein (αsyn) and multimerin1 (Mmrn1) in the Rab27a/Rab27b double knockout (DKO) mouse line previously developed by Tolmachova and colleagues in 2007. (nature.com)
These were mostly in the region on the Y chromosome identified as AZFc (azoospermia factor c region). (infertile.com)
A small percentage of affected individuals have shorter deletions in the same region. (medlineplus.gov)
The chromosomes of a patient with unilateral retinoblastoma, previously supposed to have a normal karyotype, were re-examined after the discovery that his red blood cells contained reduced activities of esterase D. A small sub-band deletion was found in chromosome region 13q14. (elsevier.com)
AVR-Pita is a metalloprotease located near the teleometric region of chromosome 3 of M. grisea. (usda.gov)
FISH mapping further narrowed the region of deletion of chromosome 4 to 39.6 centimorgans (cM) and the region of duplication to 10-35 cM. (cdc.gov)

Previously interstitial deletions of chromosome 4p have only been rarely described. (lww.com)
We conclude that SPEN is required for multiple developmental processes and SPEN haploinsufficiency is a major contributor to a disorder associated with deletions centromeric to the previously established 1p36 critical regions. (bvsalud.org)

Treatment outcomes from those who were and were not Y deleted suggests that the presence of Y deletions does not prevent the detection of sufficient sperm cells for ICSI-nor for the likelihood of pregnancy, for pregnancies occurred in those who were and were not Y deleted at a similar rate from both ejaculated and extracted sperm. (infertile.com)
Cowell, JK , Thompson, E & Rutland, P 1987, ' The need to screen all retinoblastoma patients for esterase D activity: Detection of submicroscopic chromosome deletions ', Archives of Disease in Childhood , vol. 62, no. 1, pp. 8-11. (elsevier.com)

Within organisms , genetic information generally is carried in chromosomes , where it is represented in the chemical structure of particular DNA molecules . (wikipedia.org)

In order to set up a reliable and simple routine test to determine 1p deletion in neuroblastoma, we have used the polymerase chain reaction to genotype neuroblastoma DNA at 2 loci containing a variable number of tandem repeats and located on the distal part of the short arm of chromosome 1. (archives-ouvertes.fr)
The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). (nih.gov)

Finally, we show that haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females , providing further evidence of a specific contribution of the protein to the epigenetic control of this chromosome , and a paradigm of an X chromosome -specific episignature that classifies syndromic traits. (bvsalud.org)
Drug-induced Haploinsufficiency (DIH)'는 heterozygous deletion mutant(특정 단백질이 정상세포에 비해 절반만 발현되는 변이체)에서 약물의 민감도가 증가하는 현상을 의미합니다. (bioneer.co.kr)

Anatomy59

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Sexual dimorphism in white campion: complex control of carpel number is revealed by y chromosome deletions. (1/6089)

Sexual dimorphism in white campion: deletion on the Y chromosome results in a floral asexual phenotype. (2/6089)

Microdeletion 22q11 and oesophageal atresia. (3/6089)

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. (4/6089)

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. (5/6089)

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. (6/6089)

Renal function studies in an infant with 4p (-) syndrome. (7/6089)

A case of ring chromosome. (8/6089)

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