Multiple congenital anomalies, mental retardation and hypogonadotropic hypogonadism in a boy with small marker chromosomes.
We report on a mentally retarded boy with hypogonadotropic hypogonadism. He also had a hypoplastic right kidney and right vesicoureteral reflux, blunted calyses of the left kidney, spina bifida occulta, stiff metacarpophalangeal joints, and cataract of the left eye. Chromosome studies showed two marker chromosomes, the larger of which appeared to be a ring chromosome varying greatly in size, while the smaller one remained constant in size. Chromosome abnormalities may be associated with several forms of hypogonadotropic hypogonadism.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities; D008297:Male; D012303:Ring Chromosomes; D016136:Spina Bifida Occulta / Q000235:genetics; D014718:Vesico-Ureteral Reflux / Q000235:genetics