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)

*  A Drake's Progress: Blanket
The condition is a chromosome disorder which affects the part of the brain which controls appetite, growth, and sexual ...
  http://adrakesprogress.blogspot.com/2012/10/blanket.html
*  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 ...
  http://www.bio-medicine.org/biology-technology-1/FDNA-and-The-Focus-Foundation-Join-Forces-to-Help-Children-with-Sex-Chromosome-Disorders-Using-Facial-Analysis-38318-1/
*  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 ...
  https://en.wikipedia.org/wiki/Sex_chromosome_disorders
*  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 ...
  https://www.healthcanal.com/mental-health-behavior/66426-developing-a-new-tool-to-detect-a-frequently-missed-sex-chromosome-disorder-in-boys.html
*  The Clinical Study of Sex Chromosome Variants - 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 ... or diagnostic labs as having sex-chromosome variants causing deletion/duplication of sex-linked genes or entire sex chromosomes ... The Clinical Study of Sex Chromosome Variants. The safety and scientific validity of this study is the responsibility of the ...
  https://clinicaltrials.gov/ct2/show/NCT01661010?term=congenital+heart+defects+OR+congenital+heart+disease+OR+valve+defects&recr=Open&fund=01&rank=19
*  Recent Horse Health and Welfare News | The Horse | TheHorse.com
Equine Sex Chromosome Disorder Screening Test Validated. October 14, 2017. Researchers can now detect more than 90% of the ... Out of nearly 1,000 randomly chosen horses, 85% had at least one hoof disorder visible during a regular farrier visit.... Read ...
  http://www.thehorse.com/news/by-topic-group/8/vet-and-professional?page=4
*  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 ...
  https://medicalxpress.com/tags/chromosomes/page4.html
*  The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a...
Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Genetic Diseases, X-Linked ... Heredodegenerative Disorders, Nervous System. Ovarian Diseases. Adnexal Diseases. Genital Diseases, Female. Gonadal Disorders. ... neurological disorders, and psychiatric disorders. A patient registry will also allow us to track development of these and ... The FMR1 gene is located on the X-chromosome and contains a CGG repeat in the un-translated region; this CGG repeat is normally ...
  https://clinicaltrials.gov/ct2/show/NCT01187524?recr=Open&cond=menopause&rank=20
*  Growth Hormone Treatment of Women With Turner Syndrome - 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 ...
  https://clinicaltrials.gov/ct2/show/NCT00420654?cond=%22Turner+syndrome%22&rank=7
*  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 ...
  https://clinicaltrials.gov/ct2/show/NCT01364818?term=%22mental+disorders%22+%5BCONDITION%5D+AND+child+%5BAGE-GROUP%5D&recr=Open&rank=9
*  An Open Label Extension Study in Subjects With Fragile X Syndrome - Full Text View - ClinicalTrials.gov
Sex Chromosome Disorders. Chromosome Disorders. Congenital Abnormalities. Genetic Diseases, Inborn. Genetic Diseases, X-Linked ... Subjects with a history of seizure disorder must have been seizure free for 6 months and be taking anti-epileptics, or seizure ...
  https://clinicaltrials.gov/show/NCT01555333
*  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 ...
  https://clinicaltrials.gov/ct2/show/NCT01322165?cond=%22craniosynostoses%22+OR+%22muenke+syndrome%22&rank=13
*  Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome - 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 ... Sex chromosome. Turner Syndrome. Marfan syndrome. Bicuspid aortic valve. Aortic Aneurysm. Epigenetics. Transcriptome. non- ... Turner syndrome is a congenital complete or partial lack of one of the female sex chromosomes affecting 1 of 2000 live born ...
  https://clinicaltrials.gov/ct2/show/NCT01760668?recr=Open&cond=%22Marfan+Syndrome%22&rank=1
*  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. ...
  https://clinicaltrials.gov/ct2/show/NCT00650754
*  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 ...
  https://clinicaltrials.gov/ct2/show/NCT01517698?intr=%22RO4917523%22&rank=2
*  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 ...
  https://clinicaltrials.gov/ct2/show/NCT00420459?term=%22Fragile+X+syndrome%22&rank=20
*  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 ...
  https://clinicaltrials.gov/ct2/show/NCT01282268?term=stx209+and+fragile+x+syndrome&rank=3
*  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. ...
  https://clinicaltrials.gov/ct2/show/NCT01329770?term=FMR1&rank=4
*  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. ...
  https://clinicaltrials.gov/ct2/show/NCT00858689?term=%22Fragile+X+syndrome%22&rank=17
*  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. ...
  https://clinicaltrials.gov/ct2/show/NCT00768820?cond=%22PPM-X+syndrome%22+OR+%22Mental+Retardation%2C+X-Linked%22&rank=18
*  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 ...
  https://clinicaltrials.gov/ct2/show/NCT02018172?recr=Open&cond=%22Turner+Syndrome%22&rank=13
*  Risk of Diabetes in Young Turner Syndrome Patients - 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 ... Turner Syndrome is a common genetic disorder. Seventy percent of adults with Turner Syndrome have abnormalities in glucose ...
  https://clinicaltrials.gov/ct2/show/NCT02160717?term=NCT02160717&rank=1
*  Human genetic variation - Wikipedia
Chromosome abnormalities are detected in 1 of 160 live human births. Apart from sex chromosome disorders, most cases of ... According to a 2000 study of Y-chromosome sequence variation, human Y-chromosomes trace ancestry to Africa, and the descendants ... The studies showed that pattern of admixture in this population has been sex-biased and there is a significant interactions ... Tandem repeats exist on many chromosomes, and their length varies between individuals. Each variant acts as an inherited allele ...
  https://en.wikipedia.org/wiki/Human_genetic_variation
*  Tacrolimus and Mycophenolate Mofetil in Preventing Graft-Versus-Host Disease in Patients Who Have Undergone Total-Body...
Myelodysplastic syndromes/myeloproliferative disorders (MDS/MPD) - must have received previous myelosuppressive chemotherapy or ... new clonal cytogenetic abnormalities in addition to a single Ph-positive chromosome, marrow blasts and promyelocytes ,20%. ... Sexes Eligible for Study: All. Accepts Healthy Volunteers: No. Criteria. Inclusion Criteria:. *Patient must be not eligible for ... Post-transplant Lymphoproliferative Disorder Previously Treated Myelodysplastic Syndromes Primary Myelofibrosis Prolymphocytic ...
  https://clinicaltrials.gov/ct2/show/NCT00089011?recr=Open&cond=%22Mycoses%22&rank=3

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)



  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • variations
  • 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)
  • Dr. Samango-Sprouse is also the director of the Neurodevelopmental Diagnostic Center for Young Children, located near Annapolis, Maryland, and an associate clinical professor of pediatrics at The George Washington University in Washington, D.C. She serves as the Executive Director and Chief Science Officer of The Focus Foundation and has experience with the three disorders that are the Foundation's focus: X & Y chromosomal variations, developmental coordination disorder and dyslexia. (wikipedia.org)
  • Twenty percent of children in school have some type of learning dysfunction, many believed to be undiagnosed children with X & Y Chromosomal Variations, and more than 500,000 people in the United States are believed to have a Sex Chromosome Anomaly. (wikipedia.org)
  • They also work to create one-on-one plans that help children with X & Y chromosome variations and other rare disorders grow and learn in the way that works best for them. (wikipedia.org)
  • Most health care practitioners are not well versed in chromosome variations and therefore they don't even consider testing for X & Y chromosome variations when caring for a child that is presented with developmental concerns. (wikipedia.org)
  • X & Y chromosome variations are beginning to be more widely known and tested for nationwide. (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)
  • 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)
  • 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)
  • patients
  • 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)
  • previously
  • Previously, the sex of the unborn baby was determined via obstetric ultrasonography between 16-20 weeks. (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)
  • 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)
  • Years
  • Women at least 18 years of age who have an abnormal FMR1 gene on the X chromosome. (clinicaltrials.gov)
  • Subjects with a history of seizure disorder must currently be receiving treatment with antiepileptics and must have been seizure free for 6 months, or must be seizure free for 3 years if not currently receiving antiepileptics. (clinicaltrials.gov)
  • Only 5% of children with dyslexia are ever identified in their lifetime although they have symptoms presenting by 6 years of age, while most children with developmental coordination disorder are misdiagnosed with other disorders such as just speech delay, behavior problems or ADHD. (wikipedia.org)