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《Hereditas(Beijing)》 2005-03
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The Paternal Origin of an Extra Chromosome 13 from the Patient with Patau Syndrome

ZHOU Qin, CUI Ying-Xia, WANG Yong-Mei, HUANG Yu-Feng(Laboratory of Reproduction and Genetics, Nanjing General Hospital, Nanjing command PLA, Nanjing 210002, China)  
A boy was born at 38 week’s!gestation by Cesarean delivery. Affected newborn was characteristically (bilateral) cleft lip and severe cleft palate. The sternum was malformation. The sacrospinal bifida and the talipes varus were found and the testes were not descended. The boy died after delivery within 10 minutes owing to respiratory failure. Cytogenetic analysis of his peripheral lymphocyte by G banding showed a karyotype 47,XY,+13, which was (also) confirmed by fluorescence in situ hybridization (FISH). The locus D13S317 was detected by the peripheral blood from the boy and the parents. Three alleles were found from the boy in locus D13S317 and two from the father. The extra chromosome 13 was from the nondisjunction during the first meiotic division of the father.
【CateGory Index】: R725.9
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