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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...

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Identifiers

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

Genes

ADAMTSL3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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