{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T20:36:32Z","timestamp":1773174992035,"version":"3.50.1"},"reference-count":39,"publisher":"Cold Spring Harbor Laboratory","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal. The disease is due to mutations in <jats:italic>SOX9<\/jats:italic> or chromosomal rearrangements involving the long arm of Chromosome 17 harboring the <jats:italic>SOX9<\/jats:italic> locus. SOX9, a transcription factor, is indispensible in establishing and maintaining neural stem cells in the central nervous system. We present a patient with angulation of long bones and external female genitalia on prenatal ultrasound who was subsequently found to harbor the chromosomal abnormality 46, XY, t(6;17) (p21.1;q24.3) on prenatal genetic testing. Comparative genomic hybridization revealed deletions at 6p21.1 and 17q24.3, the latter being 2.3 Mb upstream of <jats:italic>SOX9<\/jats:italic>. Whole-exome sequencing did not identify pathogenic variants in <jats:italic>SOX9<\/jats:italic>, suggesting that the 17q24.3 deletion represents a translocation breakpoint farther upstream of <jats:italic>SOX9<\/jats:italic> than previously identified. At 2 mo of age the patient developed progressive communicating ventriculomegaly and thinning of the cortical mantle without clinical signs of increased intracranial pressure. This case suggests ventriculomegaly in some cases represents not a primary impairment of cerebrospinal fluid dynamics, but an epiphenomenon driven by a genetic dysregulation of neural progenitor cell fate.<\/jats:p>","DOI":"10.1101\/mcs.a002766","type":"journal-article","created":{"date-parts":[[2018,4,25]],"date-time":"2018-04-25T13:35:24Z","timestamp":1524663324000},"page":"a002766","source":"Crossref","is-referenced-by-count":11,"title":["A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of <i>SOX9<\/i>"],"prefix":"10.1101","volume":"4","author":[{"given":"Prince","family":"Antwi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher 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