First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7.

Abstract

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. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7) have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7), molecularly characterized using array comparative genomic hybridization.

• Authors: Lindsay B Henderson, Virginia L Corson, Daniel O Saul, Cynthia Anderson, Sarah Millard, Denise A S Batista, Karin J Blakemore, Cheryl Descipio
• Journal: Case reports in genetics (Case Rep Genet) Vol. 2013 Pg. 578202 ( 2013) ISSN: 2090-6544 [Print] United States
• PMID: 23509645 (Publication Type: Journal Article)