分类号：R714.53
出版年·卷·期（页码）：2011·3·第3期（48-50）
DOI:
20110312
-----摘要：-------------------------------------------------------------------------------------------
目的 分析本例胎儿全前脑畸形及其病因。方法 询问病史，常规脐带血及外周血淋巴细胞培养制备染色体标本，G显带核型分析胎儿及其父母染色体。结果 胎儿染色体核型结果为46XY，Y≥18，其母亲的外周血染色体核型结果为46XX，其父亲的外周血染色体核型结果为46XY，Y≥18。结论 胎儿全前脑畸形与胎儿染色体异常有关，应在超声筛查的基础上，进一步行胎儿及其父母的染色体核型分析，科学寻找病因，指导以后的妊娠。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To analyses of this holoprosencephaly case and its causes. Methods History taking, routine umbilical cord blood and peripheral blood lymphocyte chromosome specimen preparation, G-banding karyotype analysis of fetal chromosomes and their parents’. Results Karyotype analysis showed the fetal karyotype was 46XY,Y≥18, the mother’s peripheral blood karyotype is 46XX, its father’s peripheral blood karyotype is 46XY,Y≥18. Conclusion Holoprosencephaly is relevant with karyotype abnormalities. First of all they should carry out the ultrasound screening, and then choose the analysis of the karyotypes of the fetal and parents. It would be a scientific method to look for the cause of disease to guide future pregnancy.
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马伶俐,丛林,袁静.产前诊断胎儿全前脑畸形并大Y染色体一例.中国产前诊断杂志,2011,3(3):48-50.
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