Ontology highlight
ABSTRACT:
SUBMITTER: Henderson LB
PROVIDER: S-EPMC3594923 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Henderson Lindsay B LB Corson Virginia L VL Saul Daniel O DO Anderson Cynthia C Millard Sarah S Batista Denise A S DA Blakemore Karin J KJ Descipio Cheryl C
Case reports in genetics 20130221
Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7)]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities ...[more]