Ontology highlight
ABSTRACT:
SUBMITTER: de la Hoz AB
PROVIDER: S-EPMC4446465 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
de la Hoz Ana Belén AB Maortua Hiart H García-Rives Ainhoa A Martínez-González María Jesús MJ Ezquerra Maitane M Tejada María-Isabel MI
Case reports in genetics 20150514
To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, learning disability, and slight facial dysmorphism, but no other major malformations. An 8 Mb de novo interstitial deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453, was revealed by means o ...[more]