De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances

J Genet. 2012 Aug;91(2):241-4. doi: 10.1007/s12041-012-0172-4.

Authors

Miriam Partida-Pérez¹, María G Domínguez, Vivian Alejandra Neira, Luis E Figuera, Horacio Rivera

Affiliation

¹ División de Genética, Centro de Investigacion Biomedica de Occidente (CIBO), Instituto Mexicano del Seguro Social, Sierra Mojada 800, CP 44340, Guadalajara, Mexico.

PMID: 22942099
DOI: 10.1007/s12041-012-0172-4

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormal Karyotype
Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics
Child
Chromosome Banding
Chromosome Breakpoints
Chromosome Inversion*
Chromosomes, Human, Pair 17 / genetics*
DNA Mutational Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability / diagnosis*
Intellectual Disability / genetics