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Triple x syndrome with short stature: case report and literature review

Mingyan Li1, Chaochun Zou, Zhengyan Zhao

  • 1Department of Child Health Care, Children's Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Disease, Hangzhou, China.

Iranian Journal of Pediatrics
|October 12, 2012
PubMed
Abstract

Keywords:
47, XXXInsulin-Like Growth Factor-1Sex Chromosome AneuploidyShort StatureTriple X Syndrome

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X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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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.
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