{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:55:39Z","timestamp":1740164139847,"version":"3.37.3"},"reference-count":7,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1155\/2013\/578202","type":"journal-article","created":{"date-parts":[[2013,2,21]],"date-time":"2013-02-21T23:10:30Z","timestamp":1361488230000},"page":"1-3","source":"Crossref","is-referenced-by-count":1,"title":["First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7"],"prefix":"10.1155","volume":"2013","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8803-7702","authenticated-orcid":true,"given":"Lindsay B.","family":"Henderson","sequence":"first","affiliation":[{"name":"Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia L.","family":"Corson","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel O.","family":"Saul","sequence":"additional","affiliation":[{"name":"Department of Pathology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Park Building SB202, Baltimore, MD 21287, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Millard","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise A. 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