Jd. Cody et al., GROWTH-HORMONE INSUFFICIENCY ASSOCIATED WITH HAPLOINSUFFICIENCY AT 18Q23, American journal of medical genetics, 71(4), 1997, pp. 420-425
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.