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Article

Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.

Gene - 15 Jun 2017

Westphal Dominik S, Andres Stephanie, Beitzel Kirsten I, Makowski Christine, Meitinger Thomas, Hoefele Julia

Abstract excerpt

Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44...

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Share to Agenesis of Corpus Callosum
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28336463
DOI: 10.1016/j.gene.2017.03.025

Genes

HNRNPU
ZBTB18
AKT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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