Distal 2q duplication in a patient with intellectual disability

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

doi:10.1038/s41439-022-00215-8

Distal 2q duplication in a patient with intellectual disability

Hum Genome Var. 2022 Nov 10;9(1):39. doi: 10.1038/s41439-022-00215-8.

Authors

Toshifumi Suzuki^{1

2}, Hitoshi Osaka³, Noriko Miyake⁴, Atsushi Fujita⁵, Yuri Uchiyama^{5

6}, Rie Seyama^{1

5}, Eriko Koshimizu⁵, Satoko Miyatake^{5

7}, Takeshi Mizuguchi⁵, Satoru Takeda^{1

8}, Naomichi Matsumoto⁹

Affiliations

¹ Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, 113-8421, Japan.
² Department of Obstetrics and Gynecology, Keiai Hospital, Saitama, 354-0017, Japan.
³ Department of Pediatrics, Jichi Medical University, Shimotsuke, 329-0498, Japan.
⁴ Department of Human Genetics, Research Institute National Center for Global Health and Medicine, Tokyo, Japan.
⁵ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
⁶ Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, 236-0004, Japan.
⁷ Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan.
⁸ Aiiku Research Institute for Maternal, Child Health and Welfare, Tokyo, Japan.
⁹ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. naomat@yokohama-cu.ac.jp.

Abstract

We 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.

Abstract

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