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y chromosome disorders

Phenotypes associated with sex chromosome disorders are less severe than autosomal defects and this is mainly due to X chromosome inactivation, as well as the fact that Y chromosomes have a low gene content. The Y chromosome is a sex-linked chromosome. Verbal IQs are seen to be significantly lower than performance IQs, due to language-based learning difficulties…READ MORE, 48,XXXX (also known as Tetrasomy X or Tetra X) is a rare sex chromosome disorder that was first identified in the early 1960s. However, 47,XYY boys are commonly misdiagnosed as simply having speech or motor delays. While girls normally only have two X chromosomes, girls with Penta X have five X chromosomes. 15q13.3 microdeletion syndrome 16p11.2 deletion syndrome 17q23.1q23.2 microdeletion syndrome 1q duplications 1q21.1 microdeletion syndrome 22q11.2 deletion syndrome 22q11.2 duplication syndrome 2q23.1 microdeletion syndrome 2q37 deletion syndrome 47 XXX syndrome 47, XYY syndrome 49,XXXXX syndrome Cat eye syndrome Chromosome 1, uniparental disomy 1q12 q21 Chromosome … The Focus Foundation’s efforts are geared toward X & Y Chromosomal Variations including: 47, XXY (Klinefelter syndrome), 47, XYY (Jacob’s syndrome), 47, XXX (Triple X), 48, XXXX (Tetrasomy X), 48, XXXY, and 49, XXXXY. Types of Y Chromosome Disorders. A lack of congenital malformations, mild dysmorphology, and varied developmental trajectory suggests that 48,XXXX is largely underdiagnosed…READ MORE, 48,XXXY can result from meiotic or mitotic nondisjunction (errors in chromosomal separation) and is often considered a variant of Klinefelter syndrome (47,XXY). The Focus Foundation’s research efforts are committed to educating health professionals throughout the world regarding X and Y Chromosomal Variations, dyslexia and developmental dyspraxia. For further information on Klinefelter syndrome, Jacob’s syndrome, and some of the less commonly occurring X and Y disorders, click on the links that follow: Only 25% of males with 47,XXY are ever diagnosed during their lifetimes; fewer than 10% of 47,XXY individuals are identified prior to adolescence. Due to the scarcity of this female chromosomal variation, it is difficult to define a common phenotypic presentation. Most cases of XYY syndrome are due to a cell division error in the sperm prior to conception. These disorders are considered very common with incidence of about 1:400–500. Most chromosome abnormalities occur as an accident in the egg cell or sperm, and therefore the anomaly is present in every cell of the body. Since that time, approximately 100 cases have been reported, although less than 50 are described in scientific literature. Girls who are prenatally diagnosed and receive early intervention services typically exhibit fewer and less severe cognitive disabilities. My 3 y/o son hasn't grown in over a year! The Y chromosome is very small and contains few genes. Sometimes, this mutation is … XYY syndrome is a rare chromosomal disorder that affects males. However, individuals with this syndrome have one X and two Y chromosomes. It is caused by the presence of an extra Y chromosome. Read more about causes of Y Chromosome Disorders. ...more », Read more about symptoms of Y Chromosome Disorders, See full list of 6 (Aneuploidy refers to a number of chromosomes besides 46, the standard number in humans.) Normally, males have 46 chromosomes including one X and one Y chromosome. Females typically have two X chromosomes (XX) and males typically have one X chromosome and one Y chromosome (XY). X & Y Chromosomal Variations are a neurogenetic disorder referred to by many other names, including Sex Chromosome Disorders, X & Y Chromosomal Variations, Sex Chromosome Anomaly, and Sex Chromosome Aneuploidy Variations. As of 2011, less than 40 cases have been reported.…READ MORE. Most chromosomal disorders occur because of alterations in the number of chromosomes or the structure of chromosomes. XYY syndrome is a rare chromosomal disorder caused by the presence of an extra Y chromosome. The Focus Foundation is the first and only research-based non-profit foundation exclusively dedicated to identifying and helping children who have X & Y  Chromosomal Variations, Dyslexia, Developmental Dyspraxia. In humans, the Y chromosome spans about 58 million base pairs (the building blocks of DNA) and represents almost 2% of the total DNA in a male cell. Males normally have one X and one Y chromosome. Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise, Copyright © 2014 Health Grades Inc. All rights reserved. If this portion carries the SRY gene, male development will be initiated. All three disorders are common but rarely identified and early treatment promotes recovery and optimal development. More than 500,000 people are believed to have 47,XXY disorders in the United States alone, with an equal distribution across all racial and socio-economic groups. Men are XY and women are XX, so only men have a Y chromosome. Therefore, identifying and treating these children is very important for them and their families. Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. There are several variant disorders which include Tetrasomy X, Pentasomy X, 49, XXXX, 48, XXXY,  48, XXYY, and 49, XXXXY. Research the causes of these diseases that are similar to, or related to, Y Chromosome Disorders: Read about other experiences, ask a question about Y Chromosome Disorders, or answer someone else's question, on our message boards: By using this site you agree to our Terms of Use. There are usually few symptoms. Boys with 48,XXYY consistently exhibit Language-Based Learning Disabilities (LLD) and difficulties with Motor Planning, issues that are related to the high rate of dyslexia associated with the disorder.

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