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Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

✍ Scribed by Stavros Sifakis; Emmanouil Manolakos; Annalisa Vetro; Dimitra Kappou; Panagiotis Peitsidis; Maria Kontodiou; Antonios Garas; Nikolaos Vrachnis; Anastasia Konstandinidou; Orsetta Zuffardi; Sandro Orru; Ioannis Papoulidis


Book ID
115024443
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
342 KB
Volume
5
Category
Article
ISSN
1755-8166

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PRENATAL DIAGNOSIS OF BLACKFAN–DIAMOND S
✍ ANDREW C. MCLENNAN; LYN S. CHITTY; JUDY RISSIK; DARRYL J. MAXWELL πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 372 KB πŸ‘ 2 views

A case of prenatally diagnosed autosomal dominant congenital hypoplastic anaemia (Blackfan-Diamond syndrome or Aase congenital anaemia) causing hydrops fetalis is presented. Recommendations for the prenatal management of Blackfan-Diamond syndrome (BDS) include prepregnancy counselling for parents wi