Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences

Abstract excerpt

47,XXY/Klinefelter syndrome is the most common sex chromosomal aneuploidy, yet 64% of males with this condition go undiagnosed. 48,XXYY is less common and there is less known about the diagnosis. The objective of this study is to describe the diagnosis experiences of parents of males with 47,XXY and 48,XXYY. Parents of 89 males with 47,XXY and 76 males with 48,XXYY completed a survey that gathered data about...

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• Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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