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PRIMARY HYPOTHYROIDISM, GROWTH HORMONE DEFICIENCY AND CONGENITAL MALFORMATIONS IN A CHILD WITH THE KARYOTYPE 46, XY, del(l)(q25q32)
Author(s) -
KOIVISTO M.,
ÅKERBLOM H. K.,
REMES M.,
CHAPELLE A. DE LA
Publication year - 1976
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1976.tb04923.x
Subject(s) - medicine , karyotype , congenital hypothyroidism , pediatrics , gynecology , endocrinology , genetics , chromosome , thyroid , biology , gene
. 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(l)(pter→q25::q32→qter). The possible relationship between the clinical features and chromosomal deletion are discussed.