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因母亲平衡易位合并膈疝导致的额外衍生染色体（22）的产前诊断：一例报告

Prenatal diagnosis of supernumerary chromosome derivative (22) due to maternal balanced translocation in association with diaphragmatic hernia: a case report.

作者信息

Kadir R A, Hastings R, Economides D L

机构信息

University Department of Obstetrics and Gynaecology, Royal Free Hospital, Hampstead, London, UK.

出版信息

Prenat Diagn. 1997 Aug;17(8):761-4.

PMID:9267900
Abstract

An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal translocation in the mother. Approximately 85 cases with an unbalanced karyotype 47,XX(or XY),+der(22),t(11;22) due to 3:1 meiotic disjunction in the parental translocation carrier have been reported in the world literature and only one of them was diagnosed prenatally. This is the first detailed case report of a supernumerary derivative (22) chromosome abnormality diagnosed prenatally in association with diaphragmatic hernia.

摘要

在超声诊断为严重胎儿生长受限和巨大膈疝后，于孕27周经脐静脉穿刺术产前检测出非整倍体胎儿。在父母血液检查证实母亲存在平衡易位后，胎儿核型显示为47,XX,der(22)t(11;22)(q23.3;q11.2)。世界文献报道了约85例因亲代易位携带者减数分裂3:1分离导致核型为47,XX(或XY),+der(22),t(11;22)不平衡的病例，其中仅有1例为产前诊断。这是首例产前诊断出与膈疝相关的额外衍生(22)号染色体异常的详细病例报告。

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