Prenatal detection and characterization of a psu idic(8)(p23.3) which likely derived from nonallelic homologous recombination between two MYOM2-repeats

Mosaicism with an isodicentric 8 with a breakpoint at p23.3 [idic(8)(p23.3)] is very rare. We report the first prenatal case on a male fetus, in which obstetric ultrasound revealed multiple congenital anomalies at 28 weeks of gestation. Cytogenetic analysis of amniocytes showed mos 45,XY,-8,psu idic...

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Автори:	Yueh-Chun Li, Shu-Chin Chien, Sunita R. Setlur, Wei-De Lin, Fuu-Jen Tsai, Chyi-Chyang Lin
Формат:	Artigo
Мова:	Inglês
Опубліковано:	Elsevier 2015-01-01
Серія:	Journal of the Formosan Medical Association
Предмети:	dicentric chromosome 8p non-allelic recombination prenatal diagnosis segmental duplication
Онлайн доступ:	http://www.sciencedirect.com/science/article/pii/S0929664612000769
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