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Article

Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.

European journal of medical genetics - 1 Jan 2000

Rea Gillian, McCullough Simon, McNerlan Susan, Craig Brian, Morrison Patrick J

Abstract excerpt

Interstitial deletions of chromosome 3q22.3-25.1 are very rare with only five previous reports of deletions in this region [1,2,4,7,9]. We describe a case of a female infant with a de novo deletion. Dysmorphic features and congenital heart disease led to a clinical genetics assessment on day 1 of life. Chromosomal analysis showed an interstitial deletion with a female karyotype 46,XX,del (3)(q23q25.1)dn....

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Source

Identifiers

PMID: 20215058
DOI: 10.1016/j.ejmg.2010.02.008

Genes

FOXL2

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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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