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Article

An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family.

European journal of medical genetics - 1 Oct 2013

Min Byung-Joo, Ko Jung Min, Seo Myung-Eui, Choi Jin-Sun, Oh Sun Kyung, Jeon Jane, Kim Eunhyun, Moon Jennifer E, Choi In Ho, Lee Charles, Kim Ok-Hwa, Cho Tae-Joon, Park Woong-Yang

Abstract excerpt

Langer-Giedion syndrome (LGS; MIM 150230), also called trichorhinophalangeal syndrome type II (TRPS2), is a contiguous gene syndrome caused by a one-copy deletion in the chromosome 8q23-q24 region, spanning the genes TRPS1 and EXT1. We identified an LGS family with two affected and two unaffected siblings from unaffected parents. To investigate the etiology of recurrence of LGS in this family, array CGH was...

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Share to Abnormal Karyotype
Share to Chromosome Breakage

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 8

Share to Comparative Genomic Hybridization

Share to Genetic Association Studies

Share to Mutagenesis, Insertional

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Source

Identifiers

PMID: 23832104
DOI: 10.1016/j.ejmg.2013.06.011

Genes

EXT1
TRPS1

Provenance

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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