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Article

De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy.

American journal of medical genetics - 18 Sept 2000

Habecker-Green J, Naeem R, Scott R M, Kanaan C, Bayer-Zwirello L, Cohn G

Abstract excerpt

We describe a newborn boy one of triplets, whose karyotype was 46,XY, t(8;12)(q22;q21). Prenatal diagnosis of multiple craniofacial anomalies had been made. Following delivery, the patient was thought to exhibit findings consistent with a diagnosis of frontofacionasal dysostosis. We hypothesize that one of the break points of this translocation may involve a gene essential to craniofacial development.

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Source

Identifiers

PMID: 10995502
DOI: 10.1002/1096-8628(20000918)94:3<179::aid-ajmg1>3.0.co;2-n

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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