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Article

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.

Journal of child neurology - 1 Jan 2011

Basel-Vanagaite Lina, Goldberg-Stern Hadassa, Mimouni-Bloch Aviva, Shkalim Vered, Böhm Detlef, Kohlhase Jürgen

Abstract excerpt

In this study, we describe the neurodevelopmental and epileptic phenotypes in a family with an inherited 1q21.1 deletion. During the pregnancy with the proband, increased nuchal translucency and oligohydramnion were detected. The proband showed mild global developmental delay and ataxic gait. Seizures started in the proband at the age of 2 years and manifested as generalized tonic-clonic seizures, atypical...

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Source

Identifiers

PMID: 21212457
DOI: 10.1177/0883073810377658

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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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