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Joubert syndrome co-existing with partial Xp trisomy: review of the literature

G S Güven1, E Yosunkaya Fenerci, A Deviren

  • 1Department of Medical Biology, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey. gsguven@istanbul.edu.tr

Genetic Counseling (Geneva, Switzerland)
|November 3, 2004
PubMed

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Sex Linked Disorders01:43

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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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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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