[XXXXY syndrome].
A child with the 49 XXXXY syndrome is presented. Diagnosis was possible early in life, because of craniofacial anomalies and congenital cardiac malformations. The main symptoms are growth retardation, craniofacial abnormalities, hypogonadism, frequent bone lesions and severe mental retardation.
D000015:Abnormalities, Multiple / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012728:Sex Chromatin / Q000648:ultrastructure; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*
Le syndrome 49 XXXXY.