TY - JOUR
T1 - A 11.7-Mb paracentric inversion in chromosome 1q detected in prenatal diagnosis associated with familial intellectual disability
AU - Rigola, Maria A.
AU - Baena, Neus
AU - Català, Vicenç
AU - Lozano, Iris
AU - Gabau, Elisabet
AU - Guitart, Miriam
AU - Fuster, Carmen
PY - 2015/12/1
Y1 - 2015/12/1
N2 - © 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.
AB - © 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.
KW - 1q42q43
KW - Chromosomal inversion
KW - Intellectual disability
KW - Paracentric inversion
U2 - 10.1159/000437127
DO - 10.1159/000437127
M3 - Article
SN - 1424-8581
VL - 146
SP - 109
EP - 114
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
IS - 2
ER -