{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T07:38:48Z","timestamp":1778657928487,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T00:00:00Z","timestamp":1536364800000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>Terminal deletions of the chromosome 6q27 region are rare genomic abnormalities, linked to specific brain malformations and other neurological phenotypes. Reported cases have variable sized genomic deletions that harbor several genes including the <jats:italic>DLL1<\/jats:italic> and <jats:italic>TBP.<\/jats:italic> We report on an inherited 0.38 Mb terminal deletion of chromosome 6q27 in a 22\u2010week fetus with isolated bilateral ventriculomegaly and her affected mother using microarray\u2010based comparative genomic hybridization and fluorescent in situ hybridization (FISH). The deleted region harbors at least seven genes including <jats:italic>DLL1<\/jats:italic> and <jats:italic>TBP.<\/jats:italic> The affected mother had a history of hydrocephalus, developmental delay, and seizures commonly associated with <jats:italic>DLL1<\/jats:italic> and <jats:italic>TBP<\/jats:italic> 6q27 deletions. This deletion is one of the smallest reported isolated 6q27 terminal deletions. Our data provides additional evidence that haploinsufficiency of the <jats:italic>DLL1<\/jats:italic> and <jats:italic>TBP<\/jats:italic> genes may be sufficient to cause the ventriculomegaly, seizures, and developmental delays associated with terminal 6q27 deletions, indicating a plausible role in the abnormal development of the central nervous system.<\/jats:p>","DOI":"10.1002\/ajmg.a.40376","type":"journal-article","created":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T15:37:42Z","timestamp":1536421062000},"page":"1985-1990","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother"],"prefix":"10.1002","volume":"176","author":[{"given":"Mili","family":"Thakur","sequence":"first","affiliation":[{"name":"Division of Genetic and Metabolic Disorders, Department of Pediatrics and Center for 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