Patau综合征患者额外13号染色体父亲起源  

The Paternal Origin of an Extra Chromosome 13 from the Patient with Patau Syndrome

作　　者：周秦[1] 崔英霞[1] 王咏梅[1] 黄宇烽[1] 

机构地区：[1]南京军区南京总医院全军医学检验中心生殖遗传室,南京210002

出　　处：《遗传》2005年第3期349-350,共2页Hereditas（Beijing)

摘　　要：报告1例孕38w经剖腹产出生的畸形男儿。患儿双侧唇裂,严重腭裂,胸骨畸形,骶部脊柱裂,双侧睾丸未降,足内翻。出生后10min由于呼吸衰竭而夭折。患儿经外周血淋巴细胞染色体核型分析为47,XY,+13,后经荧光原位杂交技术加以证实。对患儿及其父母进行短重复序列D13S317位点检测,证实患儿额外的13号染色体源自父亲第一次减数分裂不分离。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.

关 键 词：Patau综合征 额外13号染色体 D13S317位点 

分 类 号：R725.9[医药卫生—儿科]