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Article

A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.

American journal of medical genetics. Part A - 1 Aug 2016

Lebedev Igor N, Nazarenko Lyudmila P, Skryabin Nikolay A, Babushkina Nadezhda P, Kashevarova Anna A

Abstract excerpt

The widespread application of array comparative genomic hybridization (aCGH) has provided new insights into the clinical significance of copy number variations (CNVs) in the human genome. Many microdeletion syndromes have recently been linked to corresponding reciprocal microduplication syndromes related to CNVs in the same chromosomal regions. However, the extent of CNVs may not be restricted to only...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27288323
DOI: 10.1002/ajmg.a.37754

Genes

ENOPH1
HNRNPD
PRKG2
BMP3
SCD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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