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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.

SUBMITTER: Henderson LB

PROVIDER: S-EPMC3594923 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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

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]

PMID: 23509645

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