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Article

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.

American journal of medical genetics. Part A - 15 Nov 2008

Saito Shoji, Kawamura Rie, Kosho Tomoki, Shimizu Takashi, Aoyama Koki, Koike Kenichi, Wada Takahito, Matsumoto Naomichi, Kato Mitsuhiro, Wakui Keiko, Fukushima Yoshimitsu

Abstract excerpt

Monosomy 1p36 is a common subtelomeric microdeletion syndrome, characterized by craniofacial dysmorphisms, developmental delay, mental retardation, hypotonia, epilepsy, cardiovascular complications, and hearing impairment; deleted regions have been mapped within 10.0 Mb from the telomere in most documented cases. We report on a girl with a 10.5-11.1 Mb terminal deletion of 1p36 shown by fluorescence in situ...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18925681
DOI: 10.1002/ajmg.a.32556

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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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