PRENATAL-DIAGNOSIS OF TRISOMY-8 MOSAICISM IN CVS AFTER ABNORMAL ULTRASOUND FINDINGS AT 12 WEEKS

被引：14

作者：

GUICHET, A

BRIAULT, S

TOUTAIN, A

PAILLET, C

DESCAMPS, P

PIERRE, F

BODY, G

MORAINE, CL

机构：

[1] CHU TOURS,SERV MED NUCL IN VIVO & ULTRASONS,F-37044 TOURS,FRANCE

[2] CHU TOURS,CLIN BEFFROI,F-37044 TOURS,FRANCE

[3] CHU TOURS,SERV GYNECOL OBSTETR BIOL REPROD & MED,F-37044 TOURS,FRANCE

来源：

PRENATAL DIAGNOSIS | 1995年 / 15卷 / 08期

关键词：

TRISOMY; 8; MOSAICISM; HYGROMA COLLI; EARLY ULTRASOUND;

D O I：

10.1002/pd.1970150815

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a case of trisomy 8 mosaicism in which fetal chromosome analysis was prompted by ultrasound abnormalities, i.e., hygroma colli and dilatation of the renal pelves. Chorionic villus sampling (CVS) was performed, with a false-negative result on direct karyotype analysis, although cultured trophoblasts revealed trisomy 8 mosaicism. Fetal autopsy confirmed the abnormalities found on ultrasound examinations and fetal tissue examination showed different levels of trisomy 8 mosaicism. To our knowledge, this is the first prenatal diagnosis of trisomy 8 made on ultrasound findings.

引用

页码：769 / 772

页数：4

共 13 条

[1]

BERRY AC, 1978, CLIN GENET, V14, P105

[2] A 3-YEAR FOLLOW-UP ON A CHILD WITH LOW-LEVEL TRISOMY-8 MOSAICISM WHICH WAS DIAGNOSED PRENATALLY [J].

CAMURRI, L ;

CHIESI, A .

PRENATAL DIAGNOSIS, 1991, 11 (01) :59-62

[3]

CASEY PA, 1981, CLIN GENET, V20, P60

[4]

GELD BD, 1991, AM J MED GENET, V40, P471

[5]

HOOVERS JMN, 1989, CLIN GENET, V35, P446

[6] PROPOSED GUIDELINES FOR DIAGNOSIS OF CHROMOSOME MOSAICISM IN AMNIOCYTES BASED ON DATA DERIVED FROM CHROMOSOME MOSAICISM AND PSEUDOMOSAICISM STUDIES [J].

HSU, LYF ;

KAFFE, S ;

JENKINS, EC ;

ALONSO, L ;

BENN, PA ;

DAVID, K ;

HIRSCHHORN, K ;

LIEBER, E ;

SHANSKE, A ;

SHAPIRO, LR ;

SCHUTTA, E ;

WARBURTON, D .

PRENATAL DIAGNOSIS, 1992, 12 (07) :555-573

[7] TRISOMY-8 MOSAICISM IN CHORIONIC VILLUS SAMPLING - CASE-REPORT AND COUNSELING ISSUES [J].

KLEIN, J ;

GRAHAM, JM ;

PLATT, LD ;

SCHRECK, R .

PRENATAL DIAGNOSIS, 1994, 14 (06) :451-454

[8] CYTOGENETIC RESULTS FROM THE UNITED-STATES COLLABORATIVE STUDY ON CVS [J].

LEDBETTER, DH ;

ZACHARY, JM ;

SIMPSON, JL ;

GOLBUS, MS ;

PERGAMENT, E ;

JACKSON, L ;

MAHONEY, MJ ;

DESNICK, RJ ;

SCHULMAN, J ;

COPELAND, KL ;

VERLINSKY, Y ;

YANGFENG, T ;

SCHONBERG, SA ;

BABU, A ;

THARAPEL, A ;

DORFMANN, A ;

LUBS, HA ;

RHOADS, GG ;

FOWLER, SE ;

DELACRUZ, F .

PRENATAL DIAGNOSIS, 1992, 12 (05) :317-345

[9]

ROSENGREN SS, 1990, BIRTH DEFECTS ENCY

[10]

SHOFIELD B, 1992, AM J MED GENET, V44, P7

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