TY - JOUR
T1 - Brief clinical report
T2 - Multiple congenital anomalies, mental retardation and hypogonadotropic hypogonadism in a boy with small marker chromosomes
AU - Copeland, K. C.
AU - Hansen, K.
AU - Moore, C. M.
PY - 1985/1/1
Y1 - 1985/1/1
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.1320200406
DO - 10.1002/ajmg.1320200406
M3 - Article
C2 - 3887915
AN - SCOPUS:0021920702
VL - 20
SP - 607
EP - 612
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -