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双胎妊娠中17号染色体臂间倒位的产前诊断

Prenatal diagnosis of pericentric inversion of chromosome No. 17 in a twin pregnancy.

作者信息

Kassam G, Chen A T, Goldberg M F, Trusler S, Oakley G P

出版信息

Prenat Diagn. 1984 May-Jun;4(3):213-6. doi: 10.1002/pd.1970040309.

DOI:10.1002/pd.1970040309
PMID:6463028
Abstract

Although prenatal genetic diagnosis can usually provide prospective parents with information as to whether their fetus is affected with certain genetic conditions, the presence of twins and the uncertainty about the phenotype of some chromosome variations pose a major dilemma and make genetic counseling very difficult. Here, a case report of an unusual chromosome aberration (pericentric inversion of chromosome no. 17) in a twin pregnancy which was originally suspected to be monoamniotic but later proved to have two sacs was presented.

摘要

虽然产前基因诊断通常可以为准父母提供有关其胎儿是否患有某些基因疾病的信息,但双胞胎的存在以及某些染色体变异表型的不确定性带来了一个主要难题,使得遗传咨询非常困难。在此,本文报告了一例双胎妊娠中出现罕见染色体畸变(17号染色体臂间倒位)的病例,该妊娠最初被怀疑为单羊膜囊双胎,但后来证实有两个羊膜囊。

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Prenatal diagnosis of pericentric inversion of chromosome No. 17 in a twin pregnancy.双胎妊娠中17号染色体臂间倒位的产前诊断
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De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances.一名智力残疾女孩的新发17号染色体倒位(17)(p11.2q21.3):21例17号染色体倒位染色体组实例的评估
J Genet. 2012 Aug;91(2):241-4. doi: 10.1007/s12041-012-0172-4.