1. First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7
- Author
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Henderson, Lindsay B., Corson, Virginia L., Saul, Daniel O., Anderson, Cynthia, Millard, Sarah, Batista, Denise A. S., Blakemore, Karin J., and DeScipio, Cheryl
- Subjects
Article Subject - 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.
- Published
- 2013
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