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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

[Report of a case with Schwardz-Jampel syndrome]

Rong Qiang, Hui-ping Shi, Wei Yu

    Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics
    |January 30, 2004
    PubMed
    Abstract

    No abstract available in PubMed .

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    Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...