Prenatal diagnosis of an atypical 1q21.1 microdeletion and duplication associated with foetal urogenital abnormalities |
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Authors: | Can Liao Fang Fu Cui-Xing Yi Ru Li Xin Yang Qin Xu Dong-Zhi Li |
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Affiliation: | Department of Medical Genetics and Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou, Guangdong 510623, China. |
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Abstract: |
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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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