Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development-Reference-Cited by-同舟云学术

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Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development

Published:2018-01-28 Issue:1 Volume:38 Page:77-79
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Kwon Soon Sung¹,Kim Jieun²,Shin Saeam³,Lee Seung-Tae¹,Lee Kyung-A¹,Choi Jong Rak¹

Affiliation:

1. Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea

2. Department of Laboratory Medicine, Soon Chun Hyang University College of Medicine, Seoul, Korea

3. Department of Laboratory Medicine, Hallym University College of Medicine, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2018.38.1.77

Reference10 articles.

1. Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization

2. Cytogenomic characterization of an unexpected 17.6Mb 9p deletion associated to a 14.8Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype

3. Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p

4. Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model

5. Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Rare Case of a 20p13 Duplication Trisomy With Craniostenosis;Cureus;2024-06-08

2. Subtelomeric microdeletion in chromosome 20p13 associated with short stature;Clinical Case Reports;2024-06

3. Short report: Twins with 20p13 duplication. Case report and comprehensive literature review;Molecular Genetics & Genomic Medicine;2024-05

4. The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing;BMC Medical Genomics;2020-05-19

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