Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32)

Abstract

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.