Interstitial deletion in the long arm chromosome 1 in a subject with congenital abnormalities. Repository identification No. GM-214

A fibroblast culture was established from a skin biopsy of a 2 year old white male with congenital malformations, as well as hypoglycemia, primary hypothyroidism, and growth hormone deficiency (Koivisto et al., 1976). Trypsin-Giemsa banded chromosomes reveal an interstitial deletion in the long arm of chromosome 1 with break points at q25 and q32; the chromosome complement is 46,XY,del(1)(pter→q25::q32→qter). Both parents and a brother of GM-214 have normal karyotypes.