A 11.7-Mb paracentric inversion in chromosome 1q detected in prenatal diagnosis associated with familial intellectual disability

Maria A. Rigola, Neus Baena, Vicenç Català, Iris Lozano, Elisabet Gabau, Miriam Guitart, Carmen Fuster

Research output: Contribution to journalArticleResearchpeer-review

2 Citations (Scopus)

Abstract

© 2015 S. Karger AG, Basel. Most apparent balanced chromosomal inversions are usually clinically asymptomatic; however, infertility, miscarriages, and mental retardation have been reported in inversion carriers. We present a small family with a paracentric inversion 1q42.13q43 detected in routine prenatal diagnosis. Molecular cytogenetic methods defined the size of the inversion as 11.7 Mb and excluded other unbalanced chromosomal alterations in the patients. Our findings suggest that intellectual disability is caused by dysfunction, disruption, or position effects of genes located at or near the breakpoints involved in this inversion.
Original languageEnglish
Pages (from-to)109-114
JournalCytogenetic and Genome Research
Volume146
Issue number2
DOIs
Publication statusPublished - 1 Dec 2015

Keywords

  • 1q42q43
  • Chromosomal inversion
  • Intellectual disability
  • Paracentric inversion

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