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Article

A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2016

Zhao Jianhua, Noon Sarah E, Krantz Ian D, Wu Yaning

Abstract excerpt

We report on a 4-year-old female who presented with unilateral sensorineural hearing loss and a concern for developmental delay. A genome-wide SNP array analysis was performed and revealed a de novo 3.2 Mb interstitial deletion of chromosome 7q31.2q31.31. This region contains thirteen protein-encoding genes. It is unknown whether haploinsufficiency of any of these genes is responsible for the clinical features of...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 7

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis Transmembrane Conductance Regulator

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Share to Ribonucleoprotein, U4-U6 Small Nuclear

Source

Identifiers

PMID: 27075776
DOI: 10.1002/ajmg.c.31488

Genes

CFTR
CTTNBP2
NAA38

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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