First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7. (21st February 2013)

• Record Type: Journal Article
• Authors: Henderson, Lindsay B.; Corson, Virginia L.; Saul, Daniel O.; Anderson, Cynthia; Millard, Sarah; Batista, Denise A. S.; Blakemore, Karin J.; DeScipio, Cheryl
• Other Names: Chikri M. Academic Editor.; Morrison P. Academic Editor.; Yapijakis C. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2013(2013)
• Publication Date: 2013-02-21
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2013/578202
• Languages: English
• ISSNs: 2090-6544

Abstract

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.