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Effect of chromosome constitution variations on the expression of Turner phenotype.

Authors
  • Bispo, A V S
  • Dos Santos, L O
  • Burégio-Frota, P
  • Galdino, M B
  • Duarte, A R
  • Leal, G F
  • Araújo, J
  • Gomes, B
  • Soares-Ventura, E M
  • Muniz, M T C
  • Santos, N
Type
Published Article
Journal
Genetics and Molecular Research
Publisher
Genetics and Molecular Research
Publication Date
Jan 01, 2013
Volume
12
Issue
4
Pages
4243–4250
Identifiers
DOI: 10.4238/2013.March.13.13
PMID: 23546984
Source
Medline
License
Unknown

Abstract

Turner syndrome (TS) is a chronic disease related to haploinsufficiency of genes that are normally expressed in both X chromosomes in patients with female phenotype that is associated with a wide range of somatic malformations. We made detailed cytogenetic and clinical analysis of 65 patients with TS from the region of Recife, Brazil, to determine the effects of different chromosome constitutions on expression of the TS phenotype. Overall, patients with X-monosomy exhibited a tendency to have more severe phenotypes with higher morbidity, showing its importance in TS prognosis. Additionally, we found rare genetic and phenotypic abnormalities associated with this syndrome. To the best of our knowledge, this is the first case of 45,X,t(11;12)(q22;q22) described as a TS karyotype. Turner patients usually have normal intelligence; however, moderate to severe levels of mental retardation were found in 5 TS cases, which is considerate a very uncommon feature in this syndrome.

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