Catalog

Klinefelter syndrome with karyotype 48,XXYY

No MMS code

Link to WHO Definition

Klinefelter syndrome with karyotype 48,XXYY – http://id.who.int/icd/entity/1361497245

The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterised by the presence of an extra X and Y chromosome in males, and can be considered as a variant of Klinefelter syndrome as it shares the same clinical phenotype (tall stature, infertility, microorchidism, hypergonadotropic hypogonadism) but in addition includes behavioural problems (anxiety, aggressiveness, communication difficulties), psychiatric problems (hyperactivity, depression, etc.) and general minor language and learning troubles (reading difficulty, dyslexia).