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Article

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

European journal of medical genetics - 1 Jan 2000

Haldeman-Englert Chad R, Gai Xiaowu, Perin Juan Carlos, Ciano Melissa, Halbach Sara S, Geiger Elizabeth A, McDonald-McGinn Donna M, Hakonarson Hakon, Zackai Elaine H, Shaikh Tamim H

Abstract excerpt

We report a 3.1-Mb de novo deletion of 3p21.31 in a 3.5-year-old female with cortical blindness, cleft lip, CNS abnormalities, and gross developmental delays. Examination of the region showed approximately 80 genes to be involved in the deletion. Functional analysis of the deleted genes suggests that several of them may be important in normal neuronal maturation and function. Thus, haploinsufficiency of one or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19100872
DOI: 10.1016/j.ejmg.2008.11.005
PMCID: PMC4391973

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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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