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Article

Delineation of the proximal 3q microdeletion syndrome.

American journal of medical genetics. Part A - 1 Jul 2008

Simovich Marcia J, Bland Steven D, Peiffer Daniel A, Gunderson Kevin L, Cheung Sau Wai, Yatsenko Svetlana A, Shinawi Marwan

Abstract excerpt

Interstitial deletions of the proximal long arm of chromosome 3 are very rare and a defined clinical phenotype is not established yet. We report on the clinical, cytogenetic and molecular findings of a 20-month-old Hispanic male with a 2.5 Mb de novo deletion on q13.11q13.12. Up to now, this is the smallest deletion reported among patients with the proximal 3q microdeletion syndrome. The patient has distinct...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 3

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Source

Identifiers

PMID: 18536049
DOI: 10.1002/ajmg.a.32292

Genes

CBLB
ALCAM

Provenance

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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