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Article

Deletion (14) (q24.3q32.1): evidence for a distinct clinical phenotype.

American journal of medical genetics - 15 Sept 1992

Karnitis S A, Burns K, Sudduth K W, Golden W L, Wilson W G

Abstract excerpt

We report on a 4-year-old girl with distinctive facial features (redundant skin, bushy eyebrows, narrow palpebral fissures, short, upturned nose, epicanthal folds, and a long upper lip with well-defined philtrum) who has an interstitial deletion of chromosome 14 including band 14q31, designated as 46,XX,del(14)(pter-->q24.3::q32.1-->qter). Comparison with previously reported patients with deletions of 14q...

Topics

Abnormalities, Multiple
Child, Preschool
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 14
Developmental Disabilities
Face
Female
Humans
Phenotype
Tooth Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

alpha 1-Antichymotrypsin

alpha 1-Antitrypsin

alpha 1-Antitrypsin Deficiency

Source

Identifiers

PMID: 1280909
DOI: 10.1002/ajmg.1320440207

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1280909-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Deletion (14) (q24.3q32.1): evidence for a distinct clinical phenotype.PMID 1280909Read ↗

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Delineation of 14q32.3 deletion syndrome.Semantic proximity Read ↗

Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients.Semantic proximity Read ↗

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.Semantic proximity Read ↗

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.Semantic proximity Read ↗

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.Semantic proximity Read ↗

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