A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability.
Cytogenet Genome Res
; 146(2): 109-14, 2015.
Article
em En
| MEDLINE
| ID: mdl-26280689
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 1
/
Doenças Fetais
/
Inversão Cromossômica
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Cytogenet Genome Res
Assunto da revista:
GENETICA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Espanha