New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception
Abstract Background Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestatio...
| 主要な著者: | , , , , , , , , , |
|---|---|
| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
BMC
2023-02-01
|
| シリーズ: | Italian Journal of Pediatrics |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1186/s13052-023-01421-y |