4p部分单体综合征一例报道
摘要
<正>1病例患儿,男,21天,主因"发热8.5h"入院。系第5胎第3产,胎龄39w,因"臀位"行剖宫产,胎盘偏小,出生体重2250g,小于胎龄儿,宫内发育迟缓,生后无窒息,阿氏评分10分-10分-10分。生后吃奶差,精神反应差,大小便未诉异常。父年龄35岁,母年龄37岁,均体健,非近亲结婚,母孕期无患病及服用药物史。家属无遗传及畸形病史。兄2人,外貌及智力无异常。入院查体:
引文
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[4]萧广惠,等.4号染色体部分重复和缺失一例[J].遗传学报,1985,12(3):228.
[5]符生苗,等.一例4p综合征的临床与细胞遗传学分析[J].遗传与疾病,1988,5(4):214.
[6]Grouchy ID,et al.Clinical Atlas of Humam Chromosomes[M].New York:John Weley,1977.17-19.
[7]Coco R,et al.Cytogenotic findings in 200 children with montalretardation and multiple congenital anomalies of unknown course[J].Am J Med Genet,1982,12:155.
[8]夏家辉,李麓芸,著.染色体病[M].第一版.北京:科学出版社,1989.119-120.
[2]Borgaonkar DS.Chromosomal variation inman.A catalog of chromosomal Variants and Anomalies[M].4th Ed.New York Alan R Liss Inc,1984.
[3]郭玉萍,等.罕见的46,XY/45,XY-4+4p-综合征一例[J].遗传与疾病,1985,2(3):195.
[4]萧广惠,等.4号染色体部分重复和缺失一例[J].遗传学报,1985,12(3):228.
[5]符生苗,等.一例4p综合征的临床与细胞遗传学分析[J].遗传与疾病,1988,5(4):214.
[6]Grouchy ID,et al.Clinical Atlas of Humam Chromosomes[M].New York:John Weley,1977.17-19.
[7]Coco R,et al.Cytogenotic findings in 200 children with montalretardation and multiple congenital anomalies of unknown course[J].Am J Med Genet,1982,12:155.
[8]夏家辉,李麓芸,著.染色体病[M].第一版.北京:科学出版社,1989.119-120.