XXXY syndrome

(redirected from XXXXY Syndrome)
A group of conditions characterised by multiple X chromosomes and one Y chromosome
Management None, testosterone may improve secondary sexual characteristics

XXXY syndrome(s)

XXXXY syndrome A group of chromosome defects with multiple X chromosomes and one Y chromosome Clinical Somatic defects overlap Klinefelter syndrome–small undescended testes, hypoplastic penis, gynecomastia, mental retardation, wide-set eyes, ulnar and radial abnormalities; >12 of those with the 49, XXXXY syndrome present with low birth weight, muscle hypotonicity, profound mental and growth retardation, malformed ears, a short neck, hypertelorism with a mongoloid slant, flattened nose, hypoplastic external male genitalia, clinodactyly, radioulnar synostoses, coxa vara, genu varum, pes planus Treatment None, testosterone may improve 2º sexual characteristics
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While long height has also been reported in 48,XXXY syndrome, individuals with 48 XXXXY syndrome are mostly short (6).
48, XXYY, 48, XXXY and 49, XXXXY syndromes: not just variants of Klinefelter syndrome.