GROWTH-HORMONE INSUFFICIENCY ASSOCIATED WITH HAPLOINSUFFICIENCY AT 18Q23

Citation
Jd. Cody et al., GROWTH-HORMONE INSUFFICIENCY ASSOCIATED WITH HAPLOINSUFFICIENCY AT 18Q23, American journal of medical genetics, 71(4), 1997, pp. 420-425
Citations number
25
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
71
Issue
4
Year of publication
1997
Pages
420 - 425
Database
ISI
SICI code
0148-7299(1997)71:4<420:GIAWHA>2.0.ZU;2-S
Abstract
Growth hormone insufficiency is a common cause of growth failure in ch ildren with the 18q- syndrome. Individuals with this syndrome have a d eletion 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 t his region, myelin basic protein, and the galanin receptor, are candid ate genes for the growth hormone insufficiency phenotype. (C) 1997 Wil ey-Liss, Inc.