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首页> 外文期刊>Case Reports in Genetics >Inheritance of a Ring Chromosome 21 in a Couple UndergoingIn VitroFertilization (IVF): A Case Report
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Inheritance of a Ring Chromosome 21 in a Couple UndergoingIn VitroFertilization (IVF): A Case Report

机译：在一对夫妇进行体外受精（IVF）的21号环染色体的遗传：病例报告。

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An amniotic fluid sample from anin vitrofertilized pregnancy was referred for cytogenetic analysis based on a Down syndrome screening risk of 1 : 21. Routine cytogenetic analysis showed a nonmosaic karyotype of 46,XX,r(21)(p11.2q22.3), with partial monosomy for chromosome 21 due to a ring chromosome replacing one of the normal homologues. Detailed ultrasound scanning for the remainder of the pregnancy did not reveal any unusual findings. Parental bloods showed that the mother was mosaic for the ring 21 with a karyotype of 46,XX,r(21)(p11.2q22.3)/46,XX and the father had an unrelated Robertsonian translocation, with a karyotype of 45,XY,rob(13;14)(q10;q10). Microarray analysis of cultured amniocytes determined the extent of the deletion of chromosome 21 material in the ring. The parents were given genetic counselling, and a phenotypically normal female baby was delivered at term. This case highlights the importance of karyotyping as an initial step in the management of couples referred forin vitrofertilization.
机译：根据唐氏综合症的筛查风险为1：21，将来自体外受精妊娠的羊水样本进行细胞遗传学分析。常规细胞遗传学分析显示非马赛克核型为46，XX，r（21）（p11.2q22.3），由于环形染色体取代了正常的同系物之一，导致21号染色体发生了部分单体性。对剩余的妊娠进行详细的超声扫描未发现任何异常发现。父母的血统表明，母亲是第21环的核型，核型为46，XX，r（21）（p11.2q22.3）/ 46，XX，父亲有无关的罗伯逊易位，核型为45， XY，rob（13; 14）（q10; q10）。培养的羊膜细胞的微阵列分析确定了环中21号染色体物质的缺失程度。父母接受了遗传咨询，并在分娩时分型正常。该案例凸显了核型分型作为在体外受精夫妇管理中的第一步的重要性。

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