Brief clinical report: Multiple congenital anomalies, mental retardation and hypogonadotropic hypogonadism in a boy with small marker chromosomes

K. C. Copeland, K. Hansen, C. M. Moore

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)607-612
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume20
Issue number4
DOIs
Publication statusPublished - Jan 1 1985

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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