SyndromeGenes22q11.2Long arm of chromosomeDistalTranslocationGeneticsGenetic materialHumansDuplicationsMonosomyShort arm of chromosomeMutationsChromosomal deletionsAbnormalitiesSyndromesDisorderComplex chromosomeOccursDevelopmentalClinicalCytogeneticMental retardationHeterozygousTranslocationsSeverityCellsPhenotypeGene ExpressionDiseasePhenotypicPairCopiesSymptomsOccurContiguousHumanVectorsRegionInheritsIndividualsStructuresProneGARD
Syndrome47
- Distal 18q deletion syndrome occurs when a piece of the long (q) arm of chromosome 18 is missing. (nih.gov)
- The X,t(Y;22) female lacks the ZFY gene but does not exhibit the complex phenotype known as Turner's syndrome, arguing against the hypothesis that ZFY is the Turner's syndrome gene on the Y chromosome. (nih.gov)
- Deletions in a nearby region, 11p13, are known to cause 'Wilms tumor, aniridia, genitourinary anomalies, and mental retardation' (WAGR) syndrome, characterized by intellectual disability and obesity. (spectrumnews.org)
- Further implicating BDNF in autism, another study found BDNF deletions in 76.5 percent of individuals with WAGR syndrome and autism, compared with 42.3 percent of individuals with WAGR but not autism 2 . (spectrumnews.org)
- For example, the Prader-Willi syndrome deletion on chromosome 15 causes mental retardation, obesity and sometimes autism. (spectrumnews.org)
- 2q37 deletion syndrome is caused by a deletion of genetic material near the end of the long (q) arm of chromosome 2, at a location designated 2q37. (medlineplus.gov)
- Researchers are working to identify all of the genes that contribute to the features of 2q37 deletion syndrome. (medlineplus.gov)
- The loss of this gene is thought to account for many of the characteristic features of 2q37 deletion syndrome, such as intellectual disability, behavioral problems, and skeletal abnormalities. (medlineplus.gov)
- Genetic changes on the q arm of chromosome 2 have been found to cause SATB2 -associated syndrome. (medlineplus.gov)
- Cutis aplasia is one of the major features presented by 19q13.11 deletion syndrome patients. (symptoma.com)
- The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia (Molin et al. (nih.gov)
- 259050) exhibit features overlapping those of the chromosome 3q13.31 deletion syndrome but also have ossified ear cartilage, severe muscle wasting, and abnormalities of glucose metabolism resulting in insulin-resistant diabetes mellitus in adulthood. (nih.gov)
- Primrose syndrome is caused by mutation in the ZBTB20 gene (606025) on chromosome 3q13. (nih.gov)
- 2q37 deletion syndrome is a condition that can affect many parts of the body. (medlineplus.gov)
- Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. (medlineplus.gov)
- Unusual physical features are also common in people with 2q37 deletion syndrome. (medlineplus.gov)
- Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. (medlineplus.gov)
- A few people with 2q37 deletion syndrome develop a rare form of kidney cancer called Wilms tumor . (medlineplus.gov)
- 2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. (medlineplus.gov)
- While the deleted segment in 2q37 deletion syndrome varies in size, it always contains the HDAC4 gene. (medlineplus.gov)
- Additionally, a few people with mutations in only the HDAC4 gene have many of the features of 2q37 deletion syndrome. (medlineplus.gov)
- Most cases of 2q37 deletion syndrome are not inherited. (medlineplus.gov)
- Early-Onset Diabetes Mellitus in Chromosome 8p11.2 Deletion Syndrome Combined With Becker Muscular Dystrophy - A Case Report. (bvsalud.org)
- Deletion of this fragment causes a contiguous gene syndrome . (bvsalud.org)
- We report a rare case of 8p11.2 deletion syndrome with the unique phenotypes , presenting with early-onset diabetes. (bvsalud.org)
- Interrupted aortic arch and complete common atrioventricular canal can be observed in the context of coloboma, heart disease, atresia choanae, retarded growth and development and/or CNS anomalies, genital hypoplasia, and ear anomalies and/or deafness (CHARGE) syndrome , which is usually caused by mutations in CHD7 on chromosome 8q12.1. (medscape.com)
- Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. (medscape.com)
- A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. (medscape.com)
- Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. (dspace-express.com)
- Angelman syndrome is caused by the mutation or complete deletion of a specific gene on a chromosome. (medicinenet.com)
- An error in one of the genes on chromosome 15 causes Angelman syndrome. (medicinenet.com)
- Down Syndrome (Trisomy 21) Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. (msdmanuals.com)
- Down syndrome is caused by an extra chromosome 21. (msdmanuals.com)
- Turner Syndrome Turner syndrome is a sex chromosome abnormality in which girls are born with one of their two X chromosomes partially or completely missing. (msdmanuals.com)
- Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. (medscape.com)
- Most phenotypic manifestations in this syndrome reflect a contiguous gene syndrome, leading to a phenotypic map of chromosome arm 4p. (medscape.com)
- The former Pitt-Rogers-Danks syndromes, caused by overlapping 4p deletions, are now considered to be a part of Wolf-Hirschhorn syndrome. (medscape.com)
- Three different categories of the Wolf-Hirschhorn syndrome phenotype are defined and generally correlate with the extent of the 4p deletion. (medscape.com)
- The second and far more frequent category is identified by large deletions that average 5-18 Mb and cause the widely recognizable Wolf-Hirschhorn syndrome phenotype. (medscape.com)
- The third clinical category results from a very large deletion that exceeds 22-25 Mb, causing a severe phenotype that can hardly be defined as typical Wolf-Hirschhorn syndrome. (medscape.com)
- Prenatal mortality rate of Wolf-Hirschhorn syndrome is not significantly augmented because 4p deletions are not reported as an increase in spontaneous abortions. (medscape.com)
- The majority of patients with DiGeorge syndrome are recognized to have immunodeficiency in the first few months of life when they are being evaluated for cardiac malformations that are highly associated DiGeorge syndrome and/or deletions of chromosome 22q11.2. (lu.se)
- Uzumcu A, Karaman B, Toksoy G, Uyguner ZO, Candan S, Eris H. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome. (medscape.com)
- Ziter FA, Wiser WC, Robinson A. Three-generation pedigree of a Möbius syndrome variant with chromosome translocation. (medscape.com)
- Deletion of chromosome 13 in Möbius syndrome. (medscape.com)
- Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. (medscape.com)
- Nishikawa M, Ichiyama T, Hayashi T, Furukawa S. Mobius-like syndrome associated with a 1;2 chromosome translocation. (medscape.com)
Genes19
- The severity of the condition and the signs and symptoms depend on the size and location of the deletion, and which genes are involved. (wikipedia.org)
- Conclusions This family's complex phenotype is associated with a new chromosomal deletion, which suggests potential roles for the two genes, KCNC2 and ATXN7L3B , in human neurological disease. (bmj.com)
- I suggest you consider the likelihood of that being true or do some investigation to discover how many other genes are encoded on chromosome 20. (stackexchange.com)
- The region, 11p14.1, is on the short arm of the chromosome and includes six genes. (spectrumnews.org)
- To better understand the role of genes just outside of the WAGR region, Arthur Beaudet and colleagues identified four individuals carrying deletions of varying sizes that overlap at the six-gene region of 11p14.1. (spectrumnews.org)
- The findings suggest that a wider span of chromosome 11 is involved in obesity and intellectual disability, whereas the genes in the smaller 11p14.1 region contribute to social and communication deficits characteristic of autism. (spectrumnews.org)
- Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
- Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
- Chromosome 2 likely contains 1,200 to 1,300 genes that provide instructions for making proteins. (medlineplus.gov)
- It is also unknown whether the loss or gain of other genes in chromosome 2 deletions or duplications contribute to the features of MAND. (medlineplus.gov)
- One area of research that has garnered significant attention is the role of chromosome deletions in oncogenes or tumor suppressor genes. (webpharmashop.com)
- Chromosome 9 likely contains between 800 and 1,300 genes. (news-medical.net)
- Genes on chromosome 9 are among the estimated 20,000 to 25,000 total genes in the human genome. (news-medical.net)
- Some mutations shuffle the genetic code, others come from the deletion of key genes. (news-medical.net)
- The smallest (32 kb) and only inherited deletion included two additional centromeric genes and was not associated with ID. (ox.ac.uk)
- Three larger deletions (264-314 kb) that included at least five further centromeric genes were associated with moderate ID, suggesting that deletion of one or more of these five genes causes ID. (ox.ac.uk)
- Chromosome 8p11.2 includes several key genes in development such as the FGFR1, ANK1, KAT6A, and SLC20A2 genes . (bvsalud.org)
- Whole- exome sequencing revealed a 7.05-Mb deletion in 8p11 containing 43 OMIM genes , and a large in-frame deletion of exons 48-55 in the DMD gene . (bvsalud.org)
- Testing for chromosome and gene abnormalities Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)
22q11.22
- Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. (bvsalud.org)
- Male or female patient with reduced numbers of CD3+ T cells (less than 1500/mm 3 ) and a deletion of chromosome 22q11.2. (lu.se)
Long arm of chromosome1
- 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. (bmj.com)
Distal4
- Previous literature has categorized 3 groups of the 13q deletion syndromes: 1) proximal deletions not extending into q32, 2) more distal deletions including at least of part of q32, 3) most distal deletions involving q33-34. (chromodisorder.org)
- Extremely small deletions (microdeletions) involving the distal end of chromosome 20p are relatively common and in some cases are passed from parent to child without causing any health problems (called a familial variant). (rareguru.com)
- Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. (medscape.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. (dspace-express.com)
Translocation4
- How can a chromosome translocation in somatic cells lead to disease? (stackexchange.com)
- in at least four cases the deletion results from unbalanced chromosome translocation, and hence aneuploidy of a second chromosome is also present. (ox.ac.uk)
- Other changes in chromosome 4 can involve a ring structure or translocation. (medscape.com)
- G-banded karyotype showing deletion of 4p, derived from the mother, with balanced translocation (4p;8p). (medscape.com)
Genetics2
- Deletions on a segment of chromosome 11 are associated with autism, attention problems and obesity, according to a study published in the June issue of the American Journal of Medical Genetics Part A 1 . (spectrumnews.org)
- If a parent has the same deletion as the child and does not have signs or symptoms, a genetics doctor usually assumes that the 20p deletion is not the cause of the child's signs and symptoms. (rareguru.com)
Genetic material5
- Chromosome 2q 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 2. (wikipedia.org)
- Chromosome 20p deletion is a chromosome abnormality that occurs when there is a missing ( deleted ) copy of genetic material on the short arm (p) of chromosome 20 . (rareguru.com)
- Other 20p deletions are present because a parent has a rearrangement of genetic material on his/her chromosomes. (rareguru.com)
- A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)
- A missing piece of genetic material (deletion) on one of the chromosomes (most common cause). (medicinenet.com)
Humans1
- Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
Duplications3
- Chromosome 2 deletions or duplications that cause MAND lead to an abnormal amount of MBD5 protein. (medlineplus.gov)
- An increase or decrease in MBD5 protein disrupts gene expression that is normally well-controlled by this protein, which is likely why duplications and deletions of this gene lead to the same signs and symptoms. (medlineplus.gov)
- Sex chromosome abnormalities may be caused by full or partial deletions or duplications of sex chromosomes. (msdmanuals.com)
Monosomy2
- Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. (medlineplus.gov)
- occur when a person is missing a whole sex chromosome (called monosomy) or has an extra sex chromosome (one extra is trisomy). (msdmanuals.com)
Short arm of chromosome1
- 1] They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. (medscape.com)
Mutations5
- When patients with heterozygous deletion of 13q14.3 were analysed for mutation of either clone 1 or 2:2, the majority did not have mutations demonstrated within the retained allele. (ucl.ac.uk)
- However, when they acquire certain mutations or amplifications due are chromosome deletions on tumors usually oncogenes or tumor suppressors to chromosomal deletions, their normal regulatory mechanisms go awry. (webpharmashop.com)
- Sixteen patients were found to have unbalanced mutations, with up to 4 deletions. (unipv.it)
- Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. (lu.se)
- Allelic loss at 11q13 was detected in 13 tumors, and 6 of them demonstrated previously unrecognized somatic missense and frameshift deletion mutations of the MEN1 gene. (lu.se)
Chromosomal deletions1
- Studies of other chromosomal deletions have also tied autism to obesity . (spectrumnews.org)
Abnormalities5
- To learn more about chromosome abnormalities, please visit our GARD webpage on FAQs about Chromosome Disorders . (rareguru.com)
- Researchers have determined that loss of a particular gene on chromosome 2, called HDAC4 , is likely to account for many of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities). (medlineplus.gov)
- These results show that the phenotypic abnormalities of apparently balanced de novo CCRs are mainly due to cryptic deletions and that spermatogenesis is more prone to generate multiple chaotic chromosome imbalances and reciprocal translocations than oogenesis. (unipv.it)
- Abnormalities can also occur when a person is missing part of a sex chromosome (called a deletion). (msdmanuals.com)
- Sex chromosome abnormalities are common and cause syndromes that are associated with a range of physical and developmental problems. (msdmanuals.com)
Syndromes1
- Syndromes that are caused by a sex chromosome abnormality are less severe than those caused by a nonsex chromosome abnormality. (msdmanuals.com)
Disorder7
- Chromosome Disorder Outreach is a 501(c)(3) non-profit organization. (chromodisorder.org)
- Loss (deletion) or gain (duplication) of a small piece of chromosome 2 at position q23.1 can cause MBD5 -associated neurodevelopmental disorder (MAND). (medlineplus.gov)
- I was born with a rare chromosome disorder called chromosome 18q deletion. (disabilityinsider.com)
- The doctors then said I had a chromosome disorder and I wouldn't be able to walk or talk. (disabilityinsider.com)
- which means one copy of the altered chromosome in each cell is sufficient to cause the disorder. (medlineplus.gov)
- 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. (dspace-express.com)
- Rare Chromosome Disorder Support Group. (rarechromo.org)
Complex chromosome3
- Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 cases. (unipv.it)
- Using array comparative genome hybridisation (CGH) 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) were screened. (unipv.it)
- Factors involved in prediction of prognosis include the extent of the deletion, the occurrence of complex chromosome anomalies, and the severity of seizures. (medscape.com)
Occurs1
- It occurs when the long arm (q) of chromosome 18 is missing. (disabilityinsider.com)
Developmental3
- Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavior problems, and distinctive facial features. (wikipedia.org)
- Similarly, about three percent of people who are both obese and have developmental delays carry an autism-linked deletion on chromosomal region 16p. (spectrumnews.org)
- In other cases, a 20p deletion causes signs and symptoms such as developmental delay, growth delay, learning difficulties, distinctive facial features, birth defects, and/or various medical problems. (rareguru.com)
Clinical2
- 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)
- Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. (medscape.com)
Cytogenetic1
- The commonest structural cytogenetic abnormality seen in B-cell CLL is deletion of chromosome 13q13.4 and it is likely that a tumour suppressor gene lies within this deleted region. (ucl.ac.uk)
Mental retardation1
- The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping constitutional deletions found in affected individuals. (johnshopkins.edu)
Heterozygous1
- We describe six families harboring heterozygous deletions including, or near to, ERF, of which four were characterized by whole-genome sequencing and two by chromosomal microarray. (ox.ac.uk)
Translocations1
- Potential mechanisms include immunotoxicity and the induction of double-strand breaks with subsequent chromosome damage resulting in translocations and deletions. (cdc.gov)
Severity1
- Based on the severity of associated intellectual disability (ID), we identify three categories of ERF-associated deletions. (ox.ac.uk)
Cells9
- The chromosomes of a patient with unilateral retinoblastoma, previously supposed to have a normal karyotype, were reexamined 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. (bmj.com)
- Chromosome 2 is the second largest human chromosome, spanning about 243 million building blocks of DNA (base pairs) and representing almost 8 percent of the total DNA in cells. (medlineplus.gov)
- Deletions prevent one copy of the MBD5 gene in each cell from producing any functional protein, which reduces the total amount of this protein in cells. (medlineplus.gov)
- Some 20p deletions are not inherited and occur randomly during the formation of egg or sperm cells, or very early in fetal development. (rareguru.com)
- Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. (symptoma.com)
- [5] In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation . (wikipedia.org)
- Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. (wikipedia.org)
- Chromosome 9 is made up of about 140 million DNA building blocks (base pairs) and represents approximately 4.5 percent of the total DNA in cells. (news-medical.net)
- Except for certain cells (for example, sperm and egg cells or red blood cells), every human cell contains 23 pairs of chromosomes, for a total of 46 chromosomes. (msdmanuals.com)
Phenotype4
- Nonetheless, phenotype-genotype correlations suggest that two or more genetic elements in interval 1A may contribute to the sex-determining function of the Y chromosome. (nih.gov)
- Deletion of the terminal band (4p16.3) is essential for full expression of the phenotype. (medscape.com)
- The first is composed of a small deletion (≤3.5 Mb) that is usually associated with a mild phenotype, lacking major malformations. (medscape.com)
- The core phenotype maps within the terminal 1.9 Mb region of chromosome 4p. (medscape.com)
Gene Expression1
- When a portion of a chromosome is lost or deleted, it can lead to alterations in gene expression and function, potentially contributing to the development and progression of cancer. (webpharmashop.com)
Disease3
- Does the deletion of Chromosome 20 cause immunity against prion disease? (stackexchange.com)
- A better question would be if person with a deletion or natural knockout of that gene are susceptible to that prion disease. (stackexchange.com)
- Because the affected gene is on the X chromosome, girls are carriers of the mutant gene but develop the disease only very rarely (one in about 50 million). (news-medical.net)
Phenotypic1
- A large deletion several megabases (Mb) in length, easily detected using conventional chromosome analysis, is usually associated with severe phenotypic expression, including multiple malformations. (medscape.com)
Pair2
- There are 22 pairs of chromosomes that are not sex chromosomes (called nonsex chromosomes, numbered chromosomes, or autosomal chromosomes) and one pair of sex chromosomes. (msdmanuals.com)
- A pair of X and Y chromosomes (XY) results in a male, and a pair of X and X chromosomes (XX) results in a female. (msdmanuals.com)
Copies4
- Two copies of chromosome 2, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
- The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 2. (medlineplus.gov)
- [4] Before this happens, each chromosome is duplicated ( S phase ), and both copies are joined by a centromere , resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. (wikipedia.org)
- One inherits both copies of chromosome 15 from their father. (medicinenet.com)
Symptoms2
- 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)
- Treatment for chromosome 20p deletion is based on the signs and symptoms in each person. (rareguru.com)
Occur1
- The deletions occur near the end of the chromosome at a location designated 2q37. (medlineplus.gov)
Contiguous1
- Dissection of contiguous gene effects for deletions around ERF on chromosome 19. (ox.ac.uk)
Human1
- Whether a human embryo develops as a male or a female is determined by the presence of the Y chromosome. (nih.gov)
Vectors1
- Pioneering work in the late 1990s through early 2010s resulted in vectors for gene deletion and expression in Clavibacter , but there is still reliance on these tools despite known limitations. (biorxiv.org)
Region13
- The sex-determining function lies entirely in interval 1A, inasmuch as most XX individuals with descended testes and normal male external genitalia carry this small region of the Y chromosome. (nih.gov)
- The site of the esterase D gene to the often deleted region offers an objective means of deletion identification. (bmj.com)
- The aim of the work described in this thesis was to define the region of minimal deletion at chromosome 13q14.3 in our patients with B-cell CLL and to then isolate and characterise candidate tumour suppressor gene cDNAs from this genomic region. (ucl.ac.uk)
- 52% of our patients were shown to have deletion of 13q14.3 when tested by Southern blotting techniques for loss of markers from this region. (ucl.ac.uk)
- The region of minimal deletion in these patients was shown to be a maximum of 450kb. (ucl.ac.uk)
- Using further cDNA library screening techniques and RACE PCR to characterise this cDNA, a second candidate tumour suppressor gene cDNA was also isolated from the region of deletion. (ucl.ac.uk)
- The exons of clone 1 span a genomic distance of over 450kb with exons 2, 3 and 4 lying within our minimal region of deletion. (ucl.ac.uk)
- The third exon of this clone also lies within our minimal region of deletion. (ucl.ac.uk)
- We have utilized 31 DNA probes which map to the WAGR deletion region, together with six reference loci and 13 WAGR-related deletions, to subdivide this area into 16 intervals. (johnshopkins.edu)
- Delineation, by specific probes, of multiple intervals above and below the critical region and of five intervals within the overlap area provides a framework map for molecular characterization of WAGR gene loci and of deletion boundary regions. (johnshopkins.edu)
- from a specific region in the long (q) arm of chromosome 2 . (medlineplus.gov)
- Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. (medscape.com)
- The vector pSelAct-KO is a recombination based, markerless knockout system that uses dual selection to engineer seamless deletions of a region of interest, providing opportunities for repeated higher-order genetic knockouts. (biorxiv.org)
Inherits1
- Rarely, an affected individual inherits a copy of chromosome 2 with a deleted segment from an affected parent. (medlineplus.gov)
Individuals6
- Recently, a paradox has arisen with the report of four partially masculinized XX individuals who carry only a portion of interval 1A--a portion that does not overlap the deletion in the X,t(Y;22) female. (nih.gov)
- Slim chance: Individuals carrying a deletion on chromosome 11 are overweight and have behavioral problems and, in some cases, are diagnosed with autism. (spectrumnews.org)
- While the size of the deletion varies among affected individuals, it always contains a certain gene, called HDAC4 . (medlineplus.gov)
- Unique is a source of information and support to families and individuals affected by rare chromosome disorders. (rareguru.com)
- These individuals present with nearly the same spectrum of findings as those individuals with the standard deletion. (symptoma.com)
- The size of the deletion varies among affected individuals, with most affected people missing 2 million to 9 million DNA building blocks (also written as 2 Mb to 9 Mb). (medlineplus.gov)
Structures2
- Otto Bütschli was the first scientist to recognize the structures now known as chromosomes. (wikipedia.org)
- Chromosomes are thread-like structures found inside every cell nucleus that carry our genetic information. (webpharmashop.com)
Prone1
- We find that this type of non-canonical fork convergence in fission yeast is prone to trigger deletions between repetitive DNA sequences via a mechanism we call Inter-Fork Strand Annealing (IFSA) that depends on the recombination proteins Rad52, Exo1 and Mus81, and is countered by the FANCM-related DNA helicase Fml1. (elifesciences.org)
GARD1
- You can contact GARD if you have questions about a specific deletion on chromosome 20p. (rareguru.com)