| Autor: |
Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2054-345X |
| DOI: |
10.1038/s41439-022-00215-8 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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