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Article

Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.

American journal of medical genetics. Part A - 1 Nov 2009

Bursztejn Anne-Claire, Bronner Myriam, Peudenier Sylviane, Grégoire Marie-José, Jonveaux Philippe, Nemos Christophe

Abstract excerpt

Monosomy 1p36 is the most frequent terminal deletion known in Humans. Typical craniofacial features, developmental delay/mental retardation, seizures and sensorineural defects characterize 1p36 deletion syndrome. Aicardi syndrome (AIS) is a rare genetic disorder characterized by chorioretinal lacunae, corpus callosum agenesis and infantile spasms responsible for mental retardation. By screening DNA from diagnosed...

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Source

Identifiers

PMID: 19842196
DOI: 10.1002/ajmg.a.33051

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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