Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation-Reference-Cited by-同舟云学术

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Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation

Published:2018 Issue:1 Volume:8 Page:29
ISSN:2093-6338
Container-title:Laboratory Medicine Online
language:en
Short-container-title:Lab Med Online

Author:

Min Sunghee¹,Seo Eul-Ju¹²,Seol Chang Ahn¹²,Kim Gu-Hwan²,Lee Beom Hee²³,Lee Dong-hyun⁴

Affiliation:

1. Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.

2. Medical Genetics Center, Asan Medical Center, Seoul, Korea.

3. Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center Children's Hospital, Seoul, Korea.

4. Department of Laboratory Medicine, Gyeongsang National University Hospital, Jinju, Korea.

Publisher

Laboratory Medicine Online

Subject

Industrial and Manufacturing Engineering

Link

https://synapse.koreamed.org/pdf/10.3343/lmo.2018.8.1.29

Reference11 articles.

1. Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion

2. Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review

3. Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3–q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1

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