Sex Chromosome Disorders: 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).Sex Chromosome Disorders of Sex Development: Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.Sex Chromosomes: 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)Chromosome Disorders: 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)Chromosomes: 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)Sex Chromosome Aberrations: 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.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.X Chromosome: 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.Y 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.Chromosome Banding: 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.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Silene: A plant genus of the family CARYOPHYLLACEAE. The common name of campion is also used with LYCHNIS. The common name of 'pink' can be confused with other plants.X Chromosome Inactivation: 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.In Situ Hybridization, Fluorescence: 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.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human: 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.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Aneuploidy: 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).Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Artificial, Bacterial: 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.Chromosome Painting: 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.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Sex Characteristics: Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.Platypus: A small aquatic oviparous mammal of the order Monotremata found in Australia and Tasmania.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Meiosis: 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.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Sex Chromatin: In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)

*  Sex chromosome disorders - Wikipedia

Sex chromosome disorders belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of ... sex chromosomes (gonosomes). In humans this may refer to: 45, X, also known as Turner syndrome 45,X/46,XY mosaicism 46, XX/XY ...

*  FDNA and The Focus Foundation Join Forces to Help Children with Sex Chromosome Disorders Using Facia... ( ...

These d,FDNA,and,The,Focus,Foundation,Join,Forces,to,Help,Children,with,Sex,Chromosome,Disorders,Using,Facial,Analysis, ... PRWEB) May 10 2017 Millions of people worldwide are living with X and Y Chromosomal Disorders often called Sex Chromosome ... Millions of people worldwide are living with X and Y Chromosomal Disorders, often called Sex Chromosome Disorders, and don't ... Millions of people worldwide are living with X and Y Chromosomal Disorders often called Sex Chromosome Disorders and don't even ...

*  Developing a New Tool to Detect a Frequently Missed Sex Chromosome Disorder in Boys - Healthcanal.com : Healthcanal.com

... and misunderstanding about the nature of sex chromosome disorders. "The physical features of the disorder are not well known, ... Home Mental Health and Behavior Developing a New Tool to Detect a Frequently Missed Sex Chromosome Disorder in Boys ... Developing a New Tool to Detect a Frequently Missed Sex Chromosome Disorder in Boys. ... Klinefelter syndrome is caused by an extra X chromosome and is one of the most common genetic causes of male infertility. It is ...

*  Medical Xpress - chromosomes(... continued page 4)

New insights into infertility-causing sex chromosome disorders. Research carried out by Francis Crick Institute scientists ... Chromosome. A chromosome is an organized structure of DNA and protein that is found in cells. It is a single piece of coiled ... provides new insights into sex chromosome disorders which typically cause infertility, such as Turner syndrome and Klinefelter ... Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions. The word chromosome ...

*  Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment - Full Text View - ClinicalTrials.gov

Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Genetic Diseases, X-Linked ... Autism Spectrum Disorder. Fragile X Syndrome. Neurodevelopmental Disorders. Pathologic Processes. Child Development Disorders, ... Diagnosis of autism spectrum disorder (ASD), psychotic spectrum disorder (PSD), or Fragile X syndrome. ... Genetics Home Reference related topics: autism spectrum disorder fragile X syndrome Genetic and Rare Diseases Information ...

*  Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome - Full Text View - ClinicalTrials.gov

Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Genetic Diseases, X-Linked ...

*  National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions - Full Text View -...

Disorders of Sex Development. Urogenital Abnormalities. Sex Chromosome Disorders of Sex Development. Heart Defects, Congenital ... Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 Jun;7(6):e1002118. doi: ... Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI ...

*  A Study of RO4917523 in Patients With Fragile X Syndrome - Full Text View - ClinicalTrials.gov

Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Genetic Diseases, X-Linked ...

*  A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome - Full Text View - ClinicalTrials.gov

Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Genetic Diseases, X-Linked ... DSM-IV diagnosis of schizophrenia, another psychotic disorder, bipolar disorder or alcohol or other substance abuse within the ... A significant medical condition such as heart, liver, renal or pulmonary disease, or an actively treated seizure disorder, as ... Heredodegenerative Disorders, Nervous System. Aripiprazole. Antipsychotic Agents. Tranquilizing Agents. Central Nervous System ...

*  Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome - Full...

Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Heredodegenerative ... Subjects with a history of seizure disorder must currently be receiving treatment with antiepileptics and must have been ...

*  Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome - Full Text View - ClinicalTrials.gov

Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Genetic Diseases, X-Linked ... Bell in 1943, in families with several patients affected by sex-linked mental disability. This disorder is the most common ... Heredodegenerative Disorders, Nervous System. Vitamins. Ascorbic Acid. Vitamin E. Tocopherols. Tocotrienols. alpha-Tocopherol. ... The study excludes individuals with other neurological disorders not linked to the syndrome. ...

*  Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome - Full Text View - ClinicalTrials.gov

Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Genetic Diseases, X-Linked ... these structures may represent an anatomical and physiological basis for the cognitive deficits associated with this disorder. ...

*  The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome - Full Text View - ClinicalTrials.gov

Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Genetic Diseases, X-Linked ... Heredodegenerative Disorders, Nervous System. Aortic Stenosis, Supravalvular. Aortic Valve Stenosis. Heart Valve Diseases. ...

*  Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility - Full Text View - ClinicalTrials.gov

Disorders of Sex Development. Urogenital Abnormalities. Congenital Abnormalities. Sex Chromosome Disorders of Sex Development. ... Sex Chromosome Disorders. Chromosome Disorders. Genetic Diseases, Inborn. Dehydroepiandrosterone. Adjuvants, Immunologic. ...

*  Evaluation of the Adherence and the Patient Acceptability of Zomacton® Treatment With the Zomajet® Vision X Device - Full Text...

Disorders of Sex Development. Urogenital Abnormalities. Sex Chromosome Disorders of Sex Development. Heart Defects, Congenital ... Sex Chromosome Disorders. Chromosome Disorders. Genetic Diseases, Inborn. Gonadal Disorders. Ovarian Diseases. Adnexal Diseases ...

*  Effects of CX516 on Functioning in Fragile X Syndrome and Autism - Full Text View - ClinicalTrials.gov

Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Genetic Diseases, X-Linked ... Autistic Disorder. Disease. Pathologic Processes. Child Development Disorders, Pervasive. Neurodevelopmental Disorders. Mental ... Disorders. Mental Retardation, X-Linked. Intellectual Disability. Neurobehavioral Manifestations. Neurologic Manifestations. ... these changes caused by CX516 could be helpful in managing cognitive and behavioral symptoms in patients with autistic disorder ...

*  Long-term Safety and Effectiveness of Growth Hormone With GHD, TS, CRF, SGA and ISS in Children - Full Text View -...

Disorders of Sex Development. Urogenital Abnormalities. Sex Chromosome Disorders of Sex Development. Heart Defects, Congenital ...

*  Androgen for Leydig Cell Proliferation - Full Text View - ClinicalTrials.gov

Sex Chromosome Disorders of Sex Development. Disorders of Sex Development. Urogenital Abnormalities. Sex Chromosome Disorders. ... Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Testosterone. Testosterone enanthate. Testosterone ... Gonadal Disorders. Endocrine System Diseases. Infertility, Male. Infertility. Genital Diseases, Male. ...

*  Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome - Full Text View - ClinicalTrials.gov

Sex Chromosome Disorders of Sex Development. Disorders of Sex Development. Urogenital Abnormalities. Sex Chromosome Disorders. ... The Klinefelter Syndrome is one of the most common genetic disorders in men. The patients have one supernumerary X-chromosome, ... Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome (IZKF-CRA03-09). The safety and scientific validity of ... Switching on and off of specific genes on the X-chromosome is differential, depending on the origin either from the maternal or ...

*  Chromosome 23 deletion - Tips and Tricks From Doctors

How can my babies health be affected with deletion chromosome 2? Chromosome 2. p12-11.2 Deletion Syndrome can cause unusual ... What are the most common sex chromosome disorders? Dr. George Klauber Dr. Klauber ... Chromosome 13: Chromosome 13 has genes that can be associated w breast cancer, bladder cancer, Hirschsprung's dz, Schizophrenia ... A genetic accident: Human cells are supposed to have 23 chromosomes from father's sperm that pair up with 23 chromosomes from ...

*  Prospective Characterization of the Heart, Aorta and Blood Pressure in Turner Syndrome. Association With Aortic Dissection. -...

Sex Chromosome Disorders of Sex Development. Cardiovascular Abnormalities. Congenital Abnormalities. Sex Chromosome Disorders. ... Chromosome Disorders. Genetic Diseases, Inborn. Gonadal Disorders. Endocrine System Diseases. Ovarian Diseases. ... Turner syndrome is a congenital complete or partial lack one of the female sex chromosomes affecting 1 of 2000 live born girls ... Turner syndrome is a congenital complete or partial lack one of the female sex chromosomes affecting 1 of 2000 live born girls ...

*  sex chromosome | genetics | Britannica.com

Either of a pair of chromosomes that determine whether an individual is male or female. The sex chromosomes of human beings and ... sex chromosome disorder of human females, in which three X chromosomes are present, rather than the normal pair. More common ... Sex chromosome, either of a pair of chromosomes that determine whether an individual is male or female. The sex chromosomes of ... In humans the sex chromosomes comprise one pair of the total of 23 pairs of chromosomes. The other 22 pairs of chromosomes are ...

*  X-chromosome Inactivation, Epigenetics and the Transcriptome - Full Text View - ClinicalTrials.gov

Disorders of Sex Development. Urogenital Abnormalities. Sex Chromosome Disorders of Sex Development. Heart Defects, Congenital ... Sex Chromosome Disorders. Chromosome Disorders. Genetic Diseases, Inborn. Gonadal Disorders. Endocrine System Diseases. Ovarian ... The human genetic material consists of 46 chromosomes of which two are sex chromosomes. The sex-chromosome from the mother is ... Hence a male consist of one Y and one X chromosome and a female of 2 X-chromosomes. Alterations in the number of sex- ...

*  Geometry.Net - Biology Books: Genetics

Disorders of the Autosomes and the Sex Chromosomes Patterns of Single-Gene Inheritance Genetics of Common Disorders with ... The Genetics of Sex; Linkage and Chromosome Mapping; Cytogenetics; Quantitative Genetics; Population Genetics and Evolution; ... Figure 10The spread of Y-chromosome lineages around the world If you have easy access to a photocopy machine, copy these pages ... Relying as it does on "genetic markers", both on mDNA (?) and on the Y - chromosome (?), it would have been helpful to devote a ...

*  Geometry.Net - Biology Books: Medicine

Disorders of the Autosomes and the Sex Chromosomes Patterns of Single-Gene Inheritance Genetics of Common Disorders with ... Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality ... genitourinary disorders, fluids and electrolytes, dermatology, and musculoskeletal problems. ... classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. ...

Premature chromosome condensation: Premature chromosome condensation (PCC) occurs in eukaryotic organisms when mitotic cells fuse with interphase cells. Chromatin, a substance that contains genetic material such as DNA, is normally found in a loose bundle inside a cell's nucleus.Chromosome regionsSmith–Fineman–Myers syndrome: Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects. This syndrome was named after 3 men, Richard D.PCDHY: PCDH11Y is a gene unique to human males which competes with FOXP2 for the title of the "language gene." PCDH11Y is the gene for making Protocadherin 11Y, a protein that guides the development of nerve cells.Genetic imbalance: Genetic imbalance is to describe situation when the genome of a cell or organism has more copies of some genes than other genes due to chromosomal rearrangements or aneuploidy.Suresh Jayakar: Suresh Dinakar Jayakar (21 September 1937, Bombay-21 January 1988) was an Indian biologist who pioneered in the use of quantitative approaches in genetics and biology.Silene undulataImmortal DNA strand hypothesis: The immortal DNA strand hypothesis was proposed in 1975 by John Cairns as a mechanism for adult stem cells to minimize mutations in their genomes.Cairns, J.Circular bacterial chromosome: A circular bacterial chromosome is a bacterial chromosome in the form of a molecule of circular DNA. Unlike the linear DNA of most eukaryotes, typical bacterial chromosomes are circular.Platypus venom

(1/41) ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.  (+info)

(2/41) X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies.

During the past few years, rapid prenatal diagnosis of chromosome aneuploidies has been successfully achieved by quantitative fluorescent PCR (QF-PCR) amplification of chromosome-specific small tandem repeats (STR). This approach has proven to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling. For the detection of Turner's syndrome (45,X), several highly polymorphic STR on the X chromosome are needed in order to reduce the likelihood that a normal female might be homozygous for all sequences and, consequently, that the test could fail to discriminate between samples retrieved from a Turner's and a normal female fetus. Here we report a new method for rapid and accurate detection of X chromosome copy number in prenatal samples that does not depend on STR heterozygosity. The test is based on QF-PCR amplification of the X-linked HPRT together with the autosomal D21S1411 used as internal control for quantification. In the course of this study, this assay allowed the prenatal diagnosis of a rare case of a normal female homozygous for four selected highly polymorphic X chromosome STR, as well as the assessment of the normal chromosome complement of a fetus homozygous for five chromosome 21 markers.  (+info)

(3/41) Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review.

With an incidence of approximately 1 in 500 male newborns, the 47,XXY genotype is one the most common sex chromosome anomalies. It is also the most frequent genetic cause of human infertility. Some non-mosaic 47,XXY patients have sperm production which allows infertility treatment to be offered by ICSI. Therefore, the risk of transmitting a chromosome anomaly to the next generation is an important problem in reproductive genetic counselling of these patients. Here, we report on a twin pregnancy where two karyotypically normal neonates 46,XX and 46,XY were born after the use of ICSI in assisted reproduction of a patient with a non-mosaic 47,XXY syndrome. To date, only 38 evolving pregnancies including the present cases, have been reported after ICSI using sperm from non-mosaic 47,XXY patients. Although these data are scarce, they suggest that the risk of chromosome anomaly in the offspring of these patients is low; hence, their reproductive genetic counselling can be reassuring, and management of the pregnancy can proceed with caution.  (+info)

(4/41) The genetic basis of infertility.

Infertility is defined as the inability to conceive after one year of regular unprotected intercourse; approximately one in six couples wishing to start a family fall into this category. Although, in many cases, the diagnosis is simply 'unexplained', a variety of reasons including lack of ovulation, mechanical stoppage, sperm deficiencies and parental age have been implicated. It is difficult to assess accurately the overall magnitude of the contribution of genetics to infertility as most, if not all, conditions are likely to have a genetic component, for example susceptibility to infection. Nevertheless, a significant number of infertility phenotypes have been associated with specific genetic anomalies. The genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and phenotypes with multifactorial inheritance. Some genetic factors influence males specifically, whereas others affect both males and females. For example, chromosome translocations affect both males and females, whereas Klinefelter syndrome and the subsequent infertility phenotype caused by it are specific to males. This article reviews current research in the genetic basis of infertility; gender-specific disorders and those affecting both sexes are considered.  (+info)

(5/41) Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.  (+info)

(6/41) A case of 49,XXXXX in which the extra X chromosomes were maternal in origin.

This report describes an 11 month old female baby with features of pentasomy X. A molecular and cytogenetic evaluation revealed that her karyotype was 49,XXXXX and her extra X chromosomes were of maternal origin. She has muscular hypotonia, mental retardation, a cleft palate, mild hydrocephalus as a result of dilatation of both lateral ventricles, hyperextensible elbow joints, proximal radioulnar synostosis, clinodactyly of the fifth finger, valgus of the feet, and small hands and feet. In addition, she has a persistent pupillary membrane and congenital chorioretinal atrophy. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non-dysjunctions.  (+info)

(7/41) 49, XXXXY syndrome.

49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing.  (+info)

(8/41) Fate of SRY, PABY, DYS1, DYZ3 and DYZ1 loci in Indian patients harbouring sex chromosomal anomalies.

We analysed chromosomes, conducted hormonal assays and screened genomic DNA of 34 patients with or without detectable Y chromosome for the presence/absence of SRY, PABY, DYS1, DYZ3 and DYZ1 loci and for mutations in the SRY gene. The samples studied represented cases of oligozoospermia, cryptorchidism, Swyer syndrome, Turner syndrome, male pseudohermaphroditism, XXY female syndrome, Klinefelter's syndrome, repeated abortion and instances of male infertility. Chromosomal constitutions and the level of hormones (FSH, LH, PRL, E2 and TSH) were found to be abnormal in several cases. A phenotypic female (P20) positive for all the Y-linked loci screened, showed mutations upstream of the HMG box in the SRY gene. In addition, one or more of the Y-linked loci were detected in several phenotypic females. Fluorescence in-situ hybridization of metaphase chromosomes and interphase nuclei of an aborted fetus with DYZ1 probe detected signals from normal to low levels to its complete absence confirming a complex Y chromosome mosaicism. Upon DNA analysis, the fetus was found to be positive for all the above-mentioned Y-linked loci. Organizational variation within the DYZ1 arrays and its correlation with recurrent spontaneous abortion may be followed-up in subsequent studies to substantiate this observation. This would augment genetic counselling to the affected couples. Prospects of this approach in the overall management of clinical cases with sex chromosome-related anomalies are discussed.  (+info)



Abnormalities

  • Chromosome abnormalities are detected in 1 of 160 live human births. (wikipedia.org)
  • Although all physicians, ancillary health care providers and special educators are taught that genetic abnormalities can impact a child's development, practitioners often receive insufficient information about sex chromosome disorders, and don't often test for X & Y Variations when caring for a child who presents with developmental concerns. (wikipedia.org)
  • Abnormalities of chromosome 13 have been observed in canine osteoid chondrosarcoma and lymphosarcoma. (wikipedia.org)
  • Some of the most frequent genetic disorders are abnormalities of sex chromosomes, but polysomies rarely occur. (wikipedia.org)
  • Like Klinefelter syndrome, the presence of additional X chromosomes affects the male reproductive system, can cause physical abnormalities, and can affect cognitive development. (wikipedia.org)
  • The tests are not perfectly accurate, and in cases of sex chromosome disorders or other abnormalities of development their results may not match those of fetal ultrasound. (wikipedia.org)
  • This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. (wikipedia.org)

karyotype

  • A karyotype is the set of chromosomes in an organism and the suffix -somy is used to name aneuploid karyotypes. (wikipedia.org)
  • Chromosome 1 may contain a gene responsible for tumor development and lead to changes in the karyotype, including fusion of the centromere, or centric fusions. (wikipedia.org)
  • A karyotype is a chromosomal analysis in which a full set of chromosomes can be seen for an individual. (wikipedia.org)
  • The presence of the additional 2 X chromosomes on the karyotype are indicative of XXXY syndrome. (wikipedia.org)
  • In 1959, she and John Strong were the first to describe a chromosomal abnormality in humans, the additional X chromosome (the 47,XXY karyotype) also known as Klinefelter syndrome, as Harry Klinefelter had already diagnosed the symptomes in 1942. (wikipedia.org)
  • There are 47 chromosomes, instead of the usual 46, giving a 47,XYY karyotype. (wikipedia.org)
  • The syndrome is diagnosed in an increasing number of children prenatally by amniocentesis and chorionic villus sampling in order to obtain a chromosome karyotype, where the abnormality can be observed. (wikipedia.org)

Klinefelter

  • These syndromes involve an abnormal number or structure of the X and Y chromosomes, and include syndromes such as 47, XXY (Klinefelter syndrome occurring in 1 in 650 live male births), 47,XYY (Jacob's Syndrome occurring in 1 in 1,000 live male births), 47,XXX (Triple X occurring in 1 in 900 live female births) and 45, X (Turner syndrome occurring in 1 in 2,000 live female births). (bio-medicine.org)
  • According to lead author Sharron Close, PhD, boys with Klinefelter syndrome are an under-studied and vulnerable population owing to late diagnosis, stigma, and misunderstanding about the nature of sex chromosome disorders. (healthcanal.com)
  • Comparison of the frequency of Klinefelter Syndrome to other chromosomal disorders. (healthcanal.com)
  • Boys with a higher number of the physical traits associated with Klinefelter syndrome reported worse quality of life than those with fewer physical manifestations of the disorder. (healthcanal.com)
  • Klinefelter syndrome is caused by an extra X chromosome and is one of the most common genetic causes of male infertility. (healthcanal.com)
  • Research carried out by Francis Crick Institute scientists provides new insights into sex chromosome disorders which typically cause infertility, such as Turner syndrome and Klinefelter syndrome. (medicalxpress.com)
  • Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely active X chromosome. (wikipedia.org)
  • In contrast to the other common sex chromosome aneuploidies-47,XXX and 47,XXY (Klinefelter syndrome)-the average IQ scores of 47,XYY boys identified by newborn screening programs were not reduced compared to the general population. (wikipedia.org)

aneuploidy

  • Aneuploids possess chromosome numbers that are not exact multiples of the haploid number and polysomy is a type of aneuploidy. (wikipedia.org)
  • XXXY syndrome is a genetic disorder characterized by a sex chromosome aneuploidy, where males have two extra X chromosomes. (wikipedia.org)

autosome

  • Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)-they are called "dominant" because a single copy-inherited from either parent-is enough to cause this trait to appear. (wikipedia.org)
  • Because the disease is autosomal, the defective gene is found on an autosome (chromosome 6), rather than the sex-linked 23rd chromosome. (wikipedia.org)

autosomal dominant

  • Ectrodactyly-ectodermal dysplasia-cleft syndrome, or EEC, and also referred to as EEC syndrome (also known as "Split hand-split foot-ectodermal dysplasia-cleft syndrome") is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as an genetic trait. (wikipedia.org)
  • Examples of autosomal dominant traits and disorders are Huntington's disease and achondroplasia. (wikipedia.org)
  • SADDAN is an autosomal dominant genetic disorder. (wikipedia.org)

abnormality

  • Polysomy is usually caused by non-disjunction (the failure of a pair of homologous chromosomes to separate) during meiosis, but may also be due to a translocation mutation (a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes). (wikipedia.org)

humans

  • Polysomy is found in many diseases, including Down syndrome in humans where affected individuals possess three copies (trisomy) of chromosome 21. (wikipedia.org)
  • Since canine chromosome 13 is similar to human chromosome 8q, research could provide insight to treatment for prostate cancer in humans. (wikipedia.org)

manifestations

  • This causes elevations in GHB and is believed to be the trademark of this disorder and cause for the neurological manifestations seen. (wikipedia.org)

child's

  • Due to a chromosomal mistake that produces additional X or Y chromosome to the normal complement of 46, the resulting total of 47 chromosomes (or more) may impact a child's developing central nervous system and his or her body condition. (wikipedia.org)
  • Some[weasel words] argue that the term "gender reveal" is a misnomer, as all available tests measure the child's sex, which is to say, chromosomal or physical characteristics, rather than gender, which some[weasel words] believe to be an acquired social identity. (wikipedia.org)

recessive

  • Autosomal recessive traits is one pattern of inheritance for a trait, disease, or disorder to be passed on through families. (wikipedia.org)
  • For a recessive trait or disease to be displayed two copies of the trait or disorder needs to be presented. (wikipedia.org)
  • Examples of autosomal recessive disorders are albinism, cystic fibrosis. (wikipedia.org)
  • Recessive X-linked disorders are rarely seen in females and usually only affect males. (wikipedia.org)
  • Men cannot be carriers for recessive X linked traits, as they only have one X chromosome, so any X linked trait inherited from the mother will show up. (wikipedia.org)
  • Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria, is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. (wikipedia.org)
  • Being a recessive disorder, the disease can only be inherited from both parents since the disorder can only occur when a person has two copies of the gene. (wikipedia.org)

occur

  • The investigators hope that this study will eventually assist in the long term goal of studying ways to develop diagnostic methods, based on changes in cortical information processing capabilities that occur with neurodevelopmental disorders. (clinicaltrials.gov)

Typically

  • Typically eukaryotic cells (cells with nuclei) have large linear chromosomes and prokaryotic cells (cells without defined nuclei) have smaller circular chromosomes, although there are many exceptions to this rule. (medicalxpress.com)
  • Males typically have only two sex chromosomes, an X and a Y. The presence of one Y chromosome with a functioning SRY gene causes the expression of genes that determine maleness. (wikipedia.org)
  • However, it is typically held earlier, near the moment, formerly private, when parents learn the baby's predicted sex. (wikipedia.org)
  • Females may be affected with this disorder but this is very rare since females have two X chromosomes and are therefore typically carriers of the mutation. (wikipedia.org)
  • This form of thrombocytopenia is inherited on X chromosome, thus individuals with this disorder are typically males. (wikipedia.org)
  • Treatment for individuals with X-linked thrombocytopenia is typically focused on managing symptoms of the disorder. (wikipedia.org)

proteins

  • Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions. (medicalxpress.com)
  • In eukaryotes, nuclear chromosomes are packaged by proteins into a condensed structure called chromatin. (medicalxpress.com)
  • It is important that this process occurs otherwise a woman would produce twice the amount of normal X chromosome proteins. (wikipedia.org)

2017

  • PRWEB) May 10 2017 Millions of people worldwide are living with X and Y Chromosomal Disorders often called Sex Chromosome Disorders and don't even know it. (bio-medicine.org)

mutation

  • Autosomal means that the gene responsible for the mutation and disorder is found on a non-sex chromosome and that either the mother or father can pass on the gene, while dominant means that only one copy of the gene is required for the individual to have the disorder. (wikipedia.org)
  • Rather, of the few cases documented, the individual affected by the disorder is affected as a product of a random mutation, also called a de novo mutation, of the FGFR3 gene only, not by inheritance of the mutated gene. (wikipedia.org)
  • It is a WAS-related disorder, meaning it is caused by a mutation in the Wiskott-Aldrich Syndrome (WAS) gene, which is located on the short arm of the X chromosome. (wikipedia.org)
  • Because males only have one X chromosome, if they receive an X chromosome with a WAS gene mutation from their mother, then they will show phenotype of the condition. (wikipedia.org)
  • Females can be carriers for this disorder, which means that they have one normal X chromosome and one X chromosome with the WAS gene mutation. (wikipedia.org)

Fragile X Syndro

  • The Fragile X syndrome (FXS) was first described by Dr. Martin and Dr. Bell in 1943, in families with several patients affected by sex-linked mental disability. (clinicaltrials.gov)

neurodevelopmental disorders

  • The purpose of the proposed research is to study the potential changes in biomarkers of patients with neurodevelopmental disorders in response to treatment in clinical trials or in private psychiatry practice utilizing non-invasive psychophysiological measurements. (clinicaltrials.gov)

trisomy

  • For example, a polysomy with three chromosomes is called a trisomy, a polysomy with four chromosomes is called tetrasomy, etc. (wikipedia.org)
  • For people with disorders like trisomy X, where the genotype has three X chromosomes, X-inactivation will inactivate all X chromosomes until there is only one X chromosome active. (wikipedia.org)

developmental disorder

  • ABL1, a human gene well-known for its association with cancer now has been linked to a developmental disorder. (medicalxpress.com)

Chromosomal Disorders

  • Today, The Focus Foundation ( http://www.thefocusfoundation.org ) announces a collaboration with Boston-based FDNA ( http://www.FDNA.com ) to accelerate the identification of people affected by X and Y Chromosomal Disorders. (bio-medicine.org)

meiosis

  • Compaction of the duplicated chromosomes during mitosis and meiosis results in the classic four-arm structure (pictured to the right). (medicalxpress.com)
  • Polysomic inheritance occurs during meiosis when chiasmata form between more than two homologous partners, producing multivalent chromosomes. (wikipedia.org)
  • Polysomy of sex chromosomes is caused by successive nondisjunctions in meiosis I and II. (wikipedia.org)
  • An incident in chromosome separation during anaphase II (of meiosis II) called nondisjunction can result in sperm cells with an extra copy of the Y-chromosome. (wikipedia.org)

syndrome

  • Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder. (medicalxpress.com)
  • Duke Health researchers have identified a drug-like small molecule that, in animal experiments, appears to be an effective treatment for a genetic disorder called Prader-Willi syndrome. (medicalxpress.com)
  • A short fourth metacarpal bone can also be found in Turner syndrome, a disorder involving sex chromosomes. (wikipedia.org)
  • AML, MDS, or myeloproliferative disorder (MPD) with a high incidence of secondary diseases and a six-month survival rate are associated with a polysomy 8 syndrome. (wikipedia.org)
  • The additional two X chromosomes in males with XXXY syndrome causes them to have 48 chromosomes, instead of the typical 46. (wikipedia.org)
  • In the case where the sperm is the genetic cause of 48, XXXY syndrome, the sperm would have to contain two X chromosomes and one Y chromosome. (wikipedia.org)
  • In the case where the oocyte is the genetic cause of 48, XXXY syndrome the oocyte would contain three X chromosome. (wikipedia.org)
  • Despite this milestone not the XXY syndrome but the XYY syndrome is instead sometimes called Jacobs syndrome: After it had been incidentally discovered by Avery Sandberg in 1961, the syndrome was also found in a chromosome survey of 315 men at a hospital for developmentally disabled, made by Jacobs and hence considered the first little research on it. (wikipedia.org)
  • XYY syndrome is a genetic condition in which a male has an extra Y chromosome. (wikipedia.org)
  • WAS-related disorders include Wiskott-Aldrich syndrome, XLT, and X-linked congenital neutropenia (XLN). (wikipedia.org)
  • Because WAS-related disorders are phenotypically similar, it is important to confirm the absence of the diagnostic criteria for Wiskoff-Aldrich syndrome at the outset. (wikipedia.org)

genes

  • X-linked genes are found on the sex X chromosome. (wikipedia.org)
  • This is because males inherit their X chromosome and all X-linked genes will be inherited from the maternal side. (wikipedia.org)
  • The increased gene dosage of three X/Y chromosome pseudoautosomal region (PAR1) SHOX genes has been postulated as a cause of the increased stature seen in all three sex chromosome trisomies: 47,XXX, 47,XXY, and 47,XYY. (wikipedia.org)

sperm

  • The duplicated X chromosome in the sperm would have to fail to separate in both meosis I and meosis II for a sperm as well as the X and Y chromosomes would have to be in the same sperm. (wikipedia.org)
  • A normal sperm containing a Y chromosome would have to fertilize the XXX oocyte to make a XXXY zygote. (wikipedia.org)
  • If one of these atypical sperm cells contributes to the genetic makeup of a child, the child will have an extra Y-chromosome in each of the body's cells. (wikipedia.org)

inheritance

  • Autopolyploids may show polysomic inheritance of all the linkage groups, and their fertility may be reduced due unbalanced chromosome numbers in the gametes. (wikipedia.org)
  • Y-linked inheritance occurs when a gene, trait, or disorder is transferred through the Y chromosome. (wikipedia.org)
  • While the disorder can be genetically inherited, no instances of inheritance have been recorded as of yet. (wikipedia.org)

centromere

  • Chromosomes may exist as either duplicated or unduplicated-unduplicated chromosomes are single linear strands, whereas duplicated chromosomes (copied during synthesis phase) contain two copies joined by a centromere. (medicalxpress.com)
  • Chromosome 17 polysomy may not be present when the centromere is amplified, so it was later discovered that polysomy 17 is rare. (wikipedia.org)

females

  • X & Y Variations are common but frequently undiagnosed genetic conditions that differ from the normal sex chromosome pairings of XX for females and XY for males. (wikipedia.org)
  • Females express X-linked disorders when they are homozygous for the disorder and become carriers when they are heterozygous. (wikipedia.org)
  • X chromosomes in females undergo a process known as X inactivation. (wikipedia.org)
  • X inactivation is when one of the two X chromosomes in females is almost completely inactivated. (wikipedia.org)
  • In regards to the sex chromosomes, males have one X chromosome and one Y chromosome while females have two X chromosomes. (wikipedia.org)

detect

  • By working with The Focus Foundation, clinicians will be able to detect disorders earlier, changing the course of patients' lives," said Dekel Gelbman, CEO of FDNA. (bio-medicine.org)
  • Chromosomal microarray (CMA) is used to detect extra or missing chromosomal segments or whole chromosomes. (wikipedia.org)

copies

  • Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. (wikipedia.org)

whereas

  • Most eukaryotic species are diploid, meaning they have two sets of chromosomes, whereas prokaryotes are haploid, containing a single chromosome in each cell. (wikipedia.org)

behavioral

  • There is also reason to believe that these changes caused by CX516 could be helpful in managing cognitive and behavioral symptoms in patients with autistic disorder. (clinicaltrials.gov)
  • The Focus Foundation, located in Davidsonville, Maryland, is a research agency that identifies and helps children who have X & Y Variations (also called X & Y chromosomal variations), dyslexia and/or developmental coordination disorder, conditions that lead to language-based disabilities, motor planning deficits, reading dysfunction, and attention and behavioral disorders. (wikipedia.org)

newborn

  • 49,XXXXY chromosome polysomy occurs every 1 in 85,000 newborn males. (wikipedia.org)
  • Results from several decades of long-term follow-up of scores of unselected XYY males identified in eight international newborn chromosome screening studies in the 1960s and 1970s have replaced pioneering but biased studies from the 1960s (that used only institutionalized XYY men), as the basis for current understanding of the XYY genotype and established that XYY males are characterized by increased height but are not characterized by aggressive behavior. (wikipedia.org)
  • In Boston, USA 55% of 47,XYY boys (6 of 11) identified in a newborn screening program had learning difficulties and received part-time resource room help compared to 11% (1 of 9) in an above-average-IQ control group of 46,XY boys with familial balanced autosomal chromosome translocations. (wikipedia.org)

Intellectual Disability

  • Furthermore, a family history of X-linked intellectual disability, developmental coordination disorder, and seizures is strongly suggestive. (wikipedia.org)

genetic conditions

  • Sex chromosome disorders belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of sex chromosomes (gonosomes). (wikipedia.org)

infertility

  • Although infertility is the most frequent outcome of the disorder, affected individuals are also at high risk for cardiovascular disease, diabetes, osteoporosis, autoimmune disorders, and cancer. (healthcanal.com)

human

  • issue regarding transgender individuals' use of public restrooms has made me think about how I've handled sex and gender in my human genetics textbook. (medicalxpress.com)
  • First years of human chromosomes : the beginnings of human cytogenetics. (wikipedia.org)
  • It is believed that the genetic basis for SSADH deficiency resides in the SSADH human ALDH5A1 gene which maps to chromosome 6p22. (wikipedia.org)

bone

  • Grumbach made many seminal contributions the understanding of pediatric endocrinology including extensive studies on the development and function of the endocrine and neuroendocrine systems from fetal life through puberty, as well as studies of the hormonal and genetic effects on growth, bone maturation, puberty, sex determination and differentiation (and their disorders) and disease-causing pathology. (wikipedia.org)

autism

  • Vineland-II forms aid in diagnosing and classifying intellectual and developmental disabilities and other disorders, such as autism spectrum disorders and developmental delays. (clinicaltrials.gov)

diagnosis

  • Another way to diagnosis 48, XXXY is by chromosomal microarray showing the presence of extra X chromosomes. (wikipedia.org)
  • Family history would also assist in diagnosis, with specific attention to maternally related males with WAS-related disorders. (wikipedia.org)

extra

  • the most common extra autosomal chromosomes among live births are 21, 18 and 13. (wikipedia.org)
  • Polysomy types are categorized based on the number of extra chromosomes in each set, noted as a diploid (2n) with an extra chromosome of various numbers. (wikipedia.org)
  • In some cases, the addition of an extra Y-chromosome results from nondisjunction during cell division during a post-zygotic mitosis in early embryonic development. (wikipedia.org)
  • Other symptoms of the disorder include broad fingers and extra folds of skin on the arms and legs. (wikipedia.org)

affects males

  • X-linked thrombocytopenia, also referred to as XLT or thrombocytopenia 1, is an inherited clotting disorder that primarily affects males. (wikipedia.org)

delays

  • These disorders commonly cause issues such as anxiety, ADHD and depression when untreated, with symptoms beginning as early as the first year of life with speech and motor delays. (bio-medicine.org)
  • Developmentally, many individuals who suffer from the disorder show a higher level in delays and disability. (wikipedia.org)

found

  • A chromosome is an organized structure of DNA and protein that is found in cells. (medicalxpress.com)
  • Defects in dendritic spine formation have been found in the brains of patients with Fragile X, suggesting these structures may represent an anatomical and physiological basis for the cognitive deficits associated with this disorder. (clinicaltrials.gov)
  • Since Y chromosomes can only be found in males, Y linked traits are only passed on from father to son. (wikipedia.org)
  • Besides the maleness inherited in the Y-chromosome there are no other found Y-linked characteristics. (wikipedia.org)

skeletal

  • Many of the features of SADDAN are similar to those seen in other skeletal disorders, specifically achondroplasia and thanatophoric dysplasia. (wikipedia.org)

autoimmune

  • These diagnostic criteria include eczema, lymphoma, autoimmune disorder, recurrent bacterial or viral infections, family history of maternally related males with a WAS-related disorder, and absent or decreased WASp. (wikipedia.org)

gender

  • Gender reveal parties may be problematic for expectant parents whose children's biological sex cannot accurately be assigned before birth, and can set the stage for future issues when the babies will not fit squarely into a pink or blue box. (wikipedia.org)
  • Modern practices in intersex management have moved away from the presumption that infants should be subjected to sex assignment surgery by guesswork shortly after birth, and it is perceived to be more important for children to have the autonomy to match a surgical intervention to their chosen gender. (wikipedia.org)
  • According to some[weasel words], gender identity should be seen as an "open-ended category" and should not depend entirely upon one's biological sex. (wikipedia.org)

mutations

  • CTD is an X-linked disorder caused by mutations in the SLC6A8 gene. (wikipedia.org)
  • Mutations of this gene cause the protein to be overly active, causing many characteristics of this disorder. (wikipedia.org)

widely

  • Chromosomes vary widely between different organisms. (medicalxpress.com)
  • X & Y chromosome variations are beginning to be more widely known and tested for nationwide. (wikipedia.org)

cases

  • Clinicians can also become involved by loading their retrospective XY chromosomal disorder cases into Face2Gene CLINIC, which is available to clinicians globally, at no cost, to facilitate comprehensive and precise genetic evaluations. (bio-medicine.org)
  • Fortunately the disorder is very rare and has only been described in a few number of cases worldwide. (wikipedia.org)

sons

  • Fathers only pass on their Y chromosome to their sons, so no X-linked traits will be inherited from father to son. (wikipedia.org)
  • Males with X-linked thrombocytopenia will not pass the condition to their sons since they pass their Y chromosome on to any male offspring. (wikipedia.org)

common

  • This disorder is the most common cause of inherited mental disability. (clinicaltrials.gov)
  • The Focus Foundation works to inform practitioners of common signs that might mean a child has a chromosome variation. (wikipedia.org)

Disease

  • The disease presents as a bleeding disorder with easy bruising, mucosal bleeding, such as nosebleeds, and mild to severe anemia. (wikipedia.org)

maternal

  • X chromosome polysomies can be inherited from either a single maternal (49, X polysomies) or paternal (48, X polysomies) X chromosome. (wikipedia.org)

strongly

  • The word chromosome comes from the Greek χρῶμα ( chroma , color) and σῶμα ( soma , body) due to their property of being very strongly stained by particular dyes. (medicalxpress.com)

achondroplasia

  • Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), is a very rare genetic disorder. (wikipedia.org)