Ontology highlight
ABSTRACT:
SUBMITTER: Hoppe A
PROVIDER: S-EPMC4287802 | biostudies-literature | 2014 Dec
REPOSITORIES: biostudies-literature
Hoppe Anne A Heinemeyer Jan J Klopocki Eva E Graul-Neumann Luitgard M LM Spors Birgit B Bittigau Petra P Kaindl Angela M AM
Meta gene 20140111
Interstitial deletions of chromosome 12p are rare, and the phenotype spectrum is therefore still unknown. The thirteen patients reported so far suffer from developmental delay, optic nerve hypoplasia, micropenis, hypoplastic hair and skin, oligodontia, brachydactyly, and arterial hypertension. We report a de novo 12p12.2-p11.22 deletion of 9.2 Mb detected by array CGH analysis in a boy with global developmental delay, muscular hypotonia, postnatal microcephaly, facial dysmorphism including small ...[more]