Koivisto M, Akerblom H K, Remes M, de La Chapelle A
Acta Paediatr Scand. 1976 Jul;65(4):513-8. doi: 10.1111/j.1651-2227.1976.tb04923.x.
Primary thyroidal hypothyroidism, growth hormone deficiency, congenital malformations and mental retardation occurred in a child with an interstitial deletion of one of the No. 1 chromosomes. Two bands were missing, so that the karyotype could be written: del(1)(pter leads to q25::q32 leads to qter). The possible relationship between the clinical features and chromosomal deletion are discussed.
一名1号染色体之一存在间质性缺失的儿童出现了原发性甲状腺功能减退、生长激素缺乏、先天性畸形和智力发育迟缓。两条带缺失，因此核型可写成：del(1)(pter→q25::q32→qter)。讨论了临床特征与染色体缺失之间可能的关系。
