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Article

Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.

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

Pua Heather H, Krishnamurthi Swetha, Farrell Jessica, Margeta Marta, Ursell Philip C, Powers Martin, Slavotinek Anne M, Jeng Linda J B

Abstract excerpt

Array comparative genomic hybridization (aCGH) is now commonly used to identify copy number changes in individuals with developmental delay, intellectual disabilities, autism spectrum disorders, and/or multiple congenital anomalies. We report on an infant with multiple congenital anomalies and a novel 2.6 Mb interstitial deletion within 9q21.32q21.33 detected by aCGH. Her clinical presentation included dysmorphic...

Topics

Abnormalities, Multiple
Chromosome Deletion
Chromosomes, Human, Pair 9
Comparative Genomic Hybridization
Facies
Fatal Outcome
Female
Gene Deletion
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Source

Identifiers

PMID: 24501764
DOI: 10.1002/ajmg.a.36230

Genes

HNRNPK
KIF27
RMI1
UBQLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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