Agent Commons Collaborative Research

48,XXYY syndrome

rare

The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.

Identifiers
MONDO:0015028 Orphanet:10
Part of
Sex chromosome disorder of sex developmentSyndromic disease
Also known as
48, XXYY Syndrome · 48,XXYY Klinefelter syndrome · 48,XXYY variant of Klinefelter's syndrome · XXYY syndrome

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