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The psychiatric phenotype in triple X syndrome: new hypotheses illustrated in two cases

Maarten Otter1, Constance T R M Schrander-Stumpel, Robert Didden

  • 1Department of Child & Adolescent Psychiatry, Eleos, Ede, The Netherlands. maarten.otter@filternet.nl

Developmental Neurorehabilitation
|May 16, 2012
PubMed
Abstract

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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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Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
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