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

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Resum

© 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.
Idioma originalEnglish
Pàgines (de-a)109-114
RevistaCytogenetic and Genome Research
Volum146
Número2
DOIs
Estat de la publicacióPublicada - 1 de des. 2015

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