46,XY/47,XY,+17P+ MOSAICISM IN AMNIOCYTES ASSOCIATED WITH FETAL ABNORMALITIES DESPITE NORMAL FETAL BLOOD KARYOTYPE

被引：12

作者：

KINGSTON, HM ^{[1
]}

NICOLINI, U ^{[1
]}

HASLAM, J ^{[1
]}

ANDREWS, T ^{[1
]}

机构：

[1] QUEEN CHARLOTTES & CHELSEA HOSP,INST OBSTET & GYNAECOL,LONDON W6 0XG,ENGLAND

来源：

PRENATAL DIAGNOSIS | 1993年 / 13卷 / 07期

关键词：

CHROMOSOME MOSAICISM; CHROMOSOME-17; DANDY-WALKER MALFORMATION; FETAL BLOOD KARYOTYPE; PRENATAL DIAGNOSIS;

D O I：

10.1002/pd.1970130715

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

46,XY/47,XY,+17p+ mosaicism was found in two primary amniotic fluid cultures (AFCs). Fetal blood karyotype was normal, but ultrasonography revealed Dandy-Walker malformation and bilateral choroid plexus cysts. Following termination of pregnancy, fetal examination revealed post-axial polydactyly and neuroblastoma-in-situ affecting both adrenals in addition to the cerebellar abnormalities. Mosaicism for the aberrant cell line was confirmed in all fetal tissues sampled and in the placenta.

引用

页码：637 / 642

页数：6

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