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Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature

✍ Scribed by M. Klaassens; R.J.H. Galjaard; D.A. Scott; H.T. Brüggenwirth; D. van Opstal; M.V. Fox; R.R. Higgins; T.E. Cohen-Overbeek; E.M. Schoonderwaldt; B. Lee; D. Tibboel; A. de Klein

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 295 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31892

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Prenatal diagnosis of an 8p23.1 deletion

Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

✍ L. Faivre; N. Morichon-Delvallez; G. Viot; F. Narcy; S. Loison; L. Mandelbrot; M 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 1 views

The prenatal diagnosis of an 8p23.1 deletion is reported. The diagnosis was ascertained at 22 weeks of gestation because of the discovery of a diaphragmatic hernia at ultrasound. Following cytogenetic studies and counselling, the pregnancy was terminated. An autopsy confirmed the presence of a diaph