Growth hormone insufficiency associated with haploinsufficiency at 18q23

Jannine D. Cody, Daniel E. Hale, Zoran Brkanac, Celia I. Kaye, Robin J. Leach

Research output: Contribution to journalArticle

42 Scopus citations

Abstract

Growth hormone insufficiency is a common cause of growth failure in children with the 18q- syndrome. Individuals with this syndrome have a deletion as large as 36 Mb from the long arm of chromosome 18. We have evaluated 33 children with this syndrome for growth hormone production and have identified a region of approximately 2 Mb, which is deleted in every growth hormone insufficient patient. Two genes contained in this region, myelin basic protein, and the galanin receptor, are candidate genes for the growth hormone insufficiency phenotype.

Original languageEnglish (US)
Pages (from-to)420-425
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume71
Issue number4
DOIs
StatePublished - Sep 5 1997

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Keywords

  • 18q- syndrome
  • Chromosome 18
  • Galanin receptor
  • Growth hormone
  • Haplo-insufficiency
  • Myelin basic protein

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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