Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.

doi:10.1016/j.ejmg.2014.04.011

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Article

Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.

European journal of medical genetics - 1 Jul 2014

Xu Huihui, Xiao Bing, Ji Xing, Hu Qin, Chen Yingwei, Qiu Wenjuan

Abstract excerpt

Tetrasomy for the distal chromosome 15q is rare, and only 22 patients (including 6 cases without detailed information) have been described to date in the literature. Here we report on another patient with nonmosaic tetrasomy 15q25.2-qter resulted from an inverted duplication of distal chromosome 15. This patient presents with features of development delay, arachnodactyly, joint contractures and typical facial...

Topics

ADAMTS Proteins
Abnormalities, Multiple
Aneuploidy
Chromosomes, Human, Pair 15
Craniofacial Abnormalities
Extracellular Matrix Proteins
Facies
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotype
Male
Muscular Atrophy

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligonucleotide Array Sequence Analysis

Polymorphism, Single Nucleotide

Source

Open in PubMed

Identifiers

PMID: 24793337
DOI: 10.1016/j.ejmg.2014.04.011

Genes

ADAMTSL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.