Ontology highlight
ABSTRACT:
SUBMITTER: Jackson CC
PROVIDER: S-EPMC5680148 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Jackson Carolyn C CC Lefèvre-Utile Alain A Guimier Anne A Malan Valérie V Bruneau Julie J Gessain Antoine A Cassar Olivier O Amiel Jeanne J Cobat Aurélie A Rattina Vimel V Abel Laurent L Casanova Jean-Laurent JL Blanche Stéphane S
American journal of medical genetics. Part A 20170509 7
Chromosome 7 germline macrodeletions have been implicated in human congenital malformations and developmental delays. We herein report a novel heterozygous macrodeletion of 7q34-q36.3 in a 16-year-old girl originally from West Indies. Similar to previously reported cases of germline chromosome 7q terminal deletions, our patient has dental malposition, and developmental (growth and intellectual) delay. Novel phenotypic features include endemic Kaposi sarcoma (KS), furrowed tongue, thoracolumbar s ...[more]