Distal 2q duplication in a patient with intellectual disability-Reference-Cited by-同舟云学术

Distal 2q duplication in a patient with intellectual disability

Published:2022-11-10 Issue:1 Volume:9 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Suzuki Toshifumi^ORCID,Osaka Hitoshi^ORCID,Miyake Noriko,Fujita Atsushi,Uchiyama Yuri^ORCID,Seyama Rie,Koshimizu Eriko^ORCID,Miyatake Satoko^ORCID,Mizuguchi Takeshi,Takeda Satoru,Matsumoto Naomichi

Abstract

AbstractWe report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis using whole exome data detected a distal 2q duplication. This is the first report describing a distal 2q duplication at the molecular level.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-022-00215-8.pdf

Reference10 articles.

1. Dahoun-Hadorn, S. & Bretton-Chappuis, B. De novo inversion-duplication of 2q35-2qter without growth retardation. Ann. Genet. 35, 55–57 (1992).

2. Elbracht, M. et al. Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype. Am. J. Med. Genet. A 149A, 2547–2550 (2009).

3. Fritz, B. et al. Trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization. Am. J. Med. Genet. 87, 297–301 (1999).

4. Hermsen, M. A. et al. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q. Eur. J. Med. Genet. 48, 310–318 (2005).

5. Aoi, H. et al. Whole exome sequencing of fetal structural anomalies detected by ultrasonography. J. Hum. Genet. 66, 499–507 (2021).

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