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Article

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

European journal of medical genetics - 1 Jun 2018

Huynh Minh-Tuan, Tosca Lucie, Petit François, Martinovic Jelena, Proust Alexis, Bouligand Jérôme, Amiel Jeanne, Azria Elie, Parisot Frédéric, Benoit Virginie, Receveur Aline, Drévillon Loïc, Tachdjian Gérard, Brisset Sophie

Abstract excerpt

Proximal 19p13.12 microdeletion has been rarely reported. Only five postnatal cases with intellectual disability, facial dysmorphism, branchial arch defects and overlapping deletions involving proximal 19p13.12 have been documented. Two critical intervals were previously defined: a 700 kb for branchial arch defects and a 350 kb for hypertrichosis-synophrys-protruding front teeth. We describe the first prenatal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29366875
DOI: 10.1016/j.ejmg.2018.01.009

Genes

AKAP8
BRD4
NOTCH3
SYDE1
WIZ

Provenance

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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First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.PMID 29366875Read ↗

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