Ontology highlight
ABSTRACT:
SUBMITTER: Moralli D
PROVIDER: S-EPMC4460787 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Moralli Daniela D Nudel Ron R Chan May T M MT Green Catherine M CM Volpi Emanuela V EV Benítez-Burraco Antonio A Newbury Dianne F DF García-Bellido Paloma P
Molecular cytogenetics 20150610
<h4>Background</h4>We report on a young female, who presents with a severe speech and language disorder and a balanced de novo complex chromosomal rearrangement, likely to have resulted from a chromosome 7 pericentromeric inversion, followed by a chromosome 7 and 11 translocation.<h4>Results</h4>Using molecular cytogenetics, we mapped the four breakpoints to 7p21.1-15.3 (chromosome position: 20,954,043-21,001,537, hg19), 7q31 (chromosome position: 114,528,369-114,556,605, hg19), 7q21.3 (chromoso ...[more]