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Article

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.

American journal of medical genetics. Part A - 1 Apr 2014

Posmyk Renata, Leśniewicz Ryszard, Gogiel Magdalena, Chorąży Monika, Bakunowicz-Łazarczyk Alina, Sielicka Danuta, Vermeesch Joris, Nowakowska Beata Anna

Abstract excerpt

We report on a de novo interstitial deletion of 20q11.21-q11.23 in a 2-year-old girl with a set of dysmorphic features, cleft palate, heart defect, severe feeding problems, failure to thrive, developmental delay, preaxial polydactyly (right thumb), and retinal dysplasia. Interstitial microdeletions of the long arm of chromosome 20 are rare. Exclusively rare are proximal microdeletions involving 20q11-q12 region....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 24459047
DOI: 10.1002/ajmg.a.36394

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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