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Article

Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother.

American journal of medical genetics. Part A - 1 Sept 2018

Thakur Mili, Bronshtein Elena, Hankerd Michael, Adekola Henry, Puder Karoline, Gonik Bernard, Ebrahim Salah

Abstract excerpt

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 DLL1 and TBP. We report on an inherited 0.38 Mb terminal deletion of chromosome 6q27 in a 22-week fetus with isolated bilateral ventriculomegaly and her affected mother...

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Share to Cerebral Ventricles
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Comparative Genomic Hybridization

Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 30194807
DOI: 10.1002/ajmg.a.40376

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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