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Growth hormone insufficiency associated with haploinsufficiency at 18q23

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

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 37 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970905)71:4<420::aid-ajmg9>3.0.co;2-x

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✦ Synopsis

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.

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