Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32).
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002900:Chromosomes, Human, 1-3; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012729:Sex Chromosome Aberrations
D013006:Growth Hormone