Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child

Abstract excerpt

The most common sex chromosome aneuploidies (SCA) (47, XXY; 47, XYY; 47, XXX) frequently result in a milder phenotype than autosomal aneuploidies. Nevertheless, these conditions are highly variable and more symptomatic phenotypes may require significant clinical involvement, including specialty care. While historically most individuals with mild phenotypes remained undiagnosed during their lifetime, the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
• Share to Genomic variations and chromosomal abnormalities