Article
Linkage analysis excludes familial congenital hypothyroidism from chromosome 21.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1998
Ahlbom B E, Yaqoob M, Annerén G, Larsson A, Ilicki A, Wadelius C
Abstract excerpt
Congenital hypothyroidism (CH) is a heterogeneous disorder with largely unknown causes, affecting 1/3000-1/4000 new-borns. Individuals with Down syndrome have a much higher incidence of CH than the normal population, probably due to the extra copy of chromosome 21. Moreover, a girl has recently been described with CH and an interstitial deletion of proximal 21q, possibly revealing a recessive disease allele on...
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