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Journal of Endocrinological Investigation

, Volume 13, Issue 7, pp 605–607 | Cite as

Cytogenetic analysis in congenital hypothyroidism

  • F. Uccellatore
  • L. Sava
  • D. Giuffrida
  • T. Fazio
  • F. Calaciura
  • C. Regalbuto
  • R. Vigneri
Short Communication

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 < 0.005). These findings suggest that the association of congenital hypothyroidism with chromosomal variants may reflect more than chance concurrence.

Key-words

Congenital hypothyroidism karyotype cytogenetic survey 

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Copyright information

© Italian Society of Endocrinology (SIE) 1990

Authors and Affiliations

  • F. Uccellatore
    • 1
  • L. Sava
    • 1
  • D. Giuffrida
    • 1
  • T. Fazio
    • 1
  • F. Calaciura
    • 1
  • C. Regalbuto
    • 1
  • R. Vigneri
    • 1
  1. 1.Cattedra di Endocrinologia e Patologia CostituzionaleUniversità di Catania, Ospedale GaribaldiCataniaItaly

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