title: Cytogenetic analysis in congenital hypothyroidism.
abstract: In order to evaluate the possible role of genetic factors in the pathogenesis of congenital hypothyroidism (CH), we investigated the occurrence of chromosome aberrations in a consecutive series of 47 patients with CH and 208 matched healthy controls. No abnormal karyotype was found in CH patients. In 5 CH patients and in 3 healthy controls a number of heterochromatin variants was detected. Although chromosomal variants are devoid of phenotypic effects, the frequency of these variants was higher in CH patients than in the control group (10.6% vs 1.4%, p less than 0.005). These findings suggest that the association of congenital hypothyroidism with chromosomal variants may reflect more than chance concurrence.
authors.affiliation: Cattedra di Endocrinologia e Patologia Costituzionale, Università di Catania, Ospedale Garibaldi, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Uccellatore
authors.forename: L
authors.initials: L
authors.lastname: Sava
authors.forename: D
authors.initials: D
authors.lastname: Giuffrida
authors.forename: T
authors.initials: T
authors.lastname: Fazio
authors.forename: F
authors.initials: F
authors.lastname: Calaciura
authors.forename: C
authors.initials: C
authors.lastname: Regalbuto
authors.forename: R
authors.initials: R
authors.lastname: Vigneri
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D002899:Chromosomes, Human, Pair 9; D003409:Congenital Hypothyroidism; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype