PRENATAL-DIAGNOSIS OF MONOSOMY-18 AND RING CHROMOSOME-18 MOSAICISM

被引：11

作者：

EIBEN, B

UNGER, M

STOLTENBERG, G

RUTT, G

GOEBEL, R

MEYER, A

GAMERDINGER, U

HAMMANS, W

HANSEN, S

HAUSS, H

VOGEL, M

SCHWANITZ, G

机构：

[1] FREE UNIV BERLIN,KLINIKUM RUDOLF VIRCHOW,PAIDOPATHOL & PLACENTOL ABT,W-1000 BERLIN 33,GERMANY

[2] FREE UNIV BERLIN,INST NEUROPATHOL,W-1000 BERLIN 33,GERMANY

[3] UNIV BONN,INST HUMAN GENET,W-5300 BONN,GERMANY

[4] EVANGEL KRANKENHAUS,FRAUENKLIN,O-4200 OBERHAUSEN,GERMANY

来源：

PRENATAL DIAGNOSIS | 1992年 / 12卷 / 11期

关键词：

MOSAICISM; MONOSOMY-18; RING CHROMOSOME-18; HOLOPROSENCEPHALY;

D O I：

10.1002/pd.1970121114

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The case of monosomy 18/ring chromosome 18 mosaicism which was detected prenatally by amniocentesis is presented. The pregnancy was terminated in week 18. Autopsy showed complex malformation of the fetus consisting of cebocephaly, hypotelorism, microphthalmia, severe defects of brain development, and arrest of placental maturation.

引用

页码：945 / 950

页数：6

共 11 条

[1] AN EMBRYOGENIC MODEL TO EXPLAIN CYTOGENETIC INCONSISTENCIES OBSERVED IN CHORIONIC VILLUS VERSUS FETAL TISSUE [J].