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Updated: Jul 15, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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The Prader-Willi phenotype of fragile X syndrome

Stephen T Nowicki1, Flora Tassone, Michele Y Ono

  • 1Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA.

Journal of Developmental and Behavioral Pediatrics : JDBP
|April 17, 2007
PubMed

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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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