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Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case

โœ Scribed by Kohei Otake; Keiichi Uchida; Mikihiro Inoue; Yuhki Koike; Kohei Matsushita; Chikao Miki; Takashi Sugiyama; Masato Kusunoki


Publisher
Springer-Verlag
Year
2009
Tongue
English
Weight
211 KB
Volume
25
Category
Article
ISSN
0179-0358

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An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a bal