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Article

A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features.

Congenital anomalies - 1 Nov 2016

Yamamoto Toshiyuki, Shimojima Keiko, Yamazaki Sawako, Ikeno Kanju, Tohyama Jun

Abstract excerpt

Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up-slanting palpebral fissures, hypertelorism, epicanthic folds, anteverted nares, simple philtrum, thin upper lip vermilion, high arched palate, posteriorly rotated ears, and...

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Topics

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 16

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

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Source

Identifiers

PMID: 27230627
DOI: 10.1111/cga.12172

Genes

BBS2
NDRG4
RSPRY1

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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