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Article

Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.

American journal of medical genetics. Part A - 1 Dec 2010

Al-Kateb Hussam, Hahn Amanda, Gastier-Foster Julie M, Jeng Linda, McCandless Shawn E, Curtis Christine A

Abstract excerpt

We report on a de novo constitutional deletion within G-band region 19p13.3 in a girl with cutis aplasia of the scalp, facial anomalies, structural heart abnormalities, hypotonia, mild mental retardation and conductive hearing loss which we characterized with chromosomal microarray, fluorescence in situ hybridization (FISH), and SNP analyses. Initial microarray analysis revealed a 6-BAC-clone deletion covering an...

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Share to Chromosome Banding
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Artificial, Bacterial

Share to Chromosomes, Human, Pair 19

Share to Ectodermal Dysplasia

Share to Heart Defects, Congenital

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Source

Identifiers

PMID: 21108400
DOI: 10.1002/ajmg.a.33738

Genes

GNA11
TLE2

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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