インデックス付き
- Jゲートを開く
- Genamics JournalSeek
- サイテファクター
- レフシーク
- ハムダード大学
- エブスコ アリゾナ州
- NSD - ノルウェー研究データセンター
- OCLC-WorldCat
- パブロン
- ジュネーブ医学教育研究財団
- ユーロパブ
- Google スカラー
このページをシェアする
ジャーナルチラシ
概要
Congenital Diaphragmatic Hernia in a Fetus with a De novo Terminal Deletion of Chromosome 15q26.1
Ruth C, Starcevic J, Bartholomew ML, Qin N and Slavin TP
De novo terminal deletions of chromosome 15q26.1 are rare occurrences. Deletions of this region have been previously linked to congenital diaphragmatic hernia (CDH) as well as congenital malformations and developmental delay. This article presents a prenatal case of this de novo terminal deletion, detected by cytogenetic analysis and confirmed by fluorescence in situ hybridization (FISH), in a fetus with CDH and intrauterine growth restriction (IUGR). Genetic evaluation of pre- and postnatal cases of CDH should include at least a close examination of the terminal region of chromosome 15q26. As with any de novo substantial loss of genetic material, the prognosis is likely to include additional neurologic impairment and other congenital malformations in comparison to CDH patients without genomic alterations.