Ontology highlight
ABSTRACT:
SUBMITTER: Iqbal NS
PROVIDER: S-EPMC6289753 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Iqbal Nida S NS Jascur Thomas A TA Harrison Steven S Chen Catherine C Arevalo Michelle K MK Wong Daniel D Sanchez Emma E Grimsby Gwen G Wilson Kathleen K Baker Linda A LA
American journal of medical genetics. Part A 20181004 11
Prune Belly Syndrome (PBS) is a congenital multisystem myopathy with mild to lethal severity. While of uncertain etiology, 95% male predominance and familial occurrence suggest a genetic basis. As copy number variations (CNVs) can cause unexplained genetic disorders, we tested for novel CNVs in a large PBS population. We genotyped 21 unrelated PBS patients by high-resolution array comparative genomic hybridization (aCGH) and phenotyped using a novel PBS severity scoring system. Available parents ...[more]