48,XXYY syndrome

Definition

A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.

Disease data

Classification

Malformation syndrome

ORPHA code

OMIM code

ICD10 code

Q98.8

ICD11 code

LD50.3Y

*Soruce