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Prenatal diagnosis of an atypical 1q21.1 microdeletion and duplication associated with foetal urogenital abnormalities
Authors:Can Liao  Fang Fu  Cui-Xing Yi  Ru Li  Xin Yang  Qin Xu  Dong-Zhi Li
Affiliation:Department of Medical Genetics and Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou, Guangdong 510623, China.
Abstract:
Keywords:OMIM, Online Mendelian Inheritance in Man   Array-CGH, array-based comparative genomic hybridization   CNV, copy-number variation   TAR, thrombocytopenia absent radius   LCR, low-copy repeat   CHD, congenital heart defect   RT-PCR, Real time polymerase chain reaction
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