TRISOMY-12 MOSAICISM IN PHENOTYPICALLY NORMAL FETUSES FOLLOWING PRENATAL DETECTION

被引：24

作者：

WYANDT, HE

MAHER, T

FISHER, NL

PATIL, SR

OSELLA, P

LUTHARDT, FW

KAWADA, C

WILLIAMSON, R

MILUNSKY, A

机构：

[1] BOSTON UNIV,SCH MED,DEPT PEDIAT,BOSTON,MA 02118

[2] TUFTS UNIV,NEW ENGLAND MED CTR,DEPT PATHOL,BOSTON,MA 02111

[3] TUFTS UNIV,NEW ENGLAND MED CTR,DEPT OBSTET & GYNECOL,BOSTON,MA 02111

[4] MED GENET SERV,SEATTLE,WA

[5] BOSTON UNIV,SCH MED,DEPT PATHOL,BOSTON,MA 02118

[6] SWEDISH MED CTR,ANIM RES LAB,SEATTLE,WA 98104

[7] UNIV IOWA HOSP & CLIN,DEPT PEDIAT,DIV MED GENET,IOWA CITY,IA 52242

来源：

PRENATAL DIAGNOSIS | 1990年 / 10卷 / 09期

关键词：

Chromosome mosaicism; Prenatal diagnosis; Trisomy; 12;

D O I：

10.1002/pd.1970100904

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report three cases of amniocentesis in which mosaicism for trisomy 12 was detected in two or more independent cultures. The parents elected to terminate the pregnancy in all three cases. Follow‐up studies in two of the cases confirmed the mosaicism in fetal tissues (in subcutaneous tissue in one case; in fetal lung in the other), but not in blood. No fetal anomalies were evident by ultrasound or at autopsy. These results along with other reported cases demonstrate the difficulty in counselling for mosaic trisomy 12. Copyright © 1990 John Wiley & Sons, Ltd.

引用

页码：569 / 574

页数：6

共 15 条

[1]

BENN PA, 1985, KARYOGRAM, V11, P55

[2] EUROPEAN COLLABORATIVE STUDY ON PRENATAL-DIAGNOSIS - MOSAICISM, PSEUDOMOSAICISM AND SINGLE ABNORMAL-CELLS IN AMNIOTIC-FLUID CELL-CULTURES [J].

BUI, TH ;

ISELIUS, L ;

LINDSTEN, J .

PRENATAL DIAGNOSIS, 1984, 4 :145-162

[3] UNITED-STATES SURVEY ON CHROMOSOME MOSAICISM AND PSEUDOMOSAICISM IN PRENATAL-DIAGNOSIS [J].

HSU, LYF ;

PERLIS, TE .

PRENATAL DIAGNOSIS, 1984, 4 :97-130

[4]

HSU LYF, 1987, GENETIC DISORDERS FE, P115

[5] PRENATAL-DIAGNOSIS OF A 46,XX/47,XX, + 12 MOSAIC [J].

JENSEN, PKA ;

HAHNEMANN, N ;

REHDER, H ;

SCHWINGER, E ;

FRIEDRICH, U .

PRENATAL DIAGNOSIS, 1984, 4 (04) :307-309

[6]

KALOUSEK DK, 1989, MOL CYTOGENETIC STUD, P153

[7]

LESCHOT NJ, 1988, CLIN GENET, V34, P135

[8]

MIKKELSEN M, 1987, HUM GENET, P589

[9]

PATIL SR, 1983, AM J MED GENET, V17, P453

[10] CHROMOSOMAL MOSAICISM IN THE KILLIAN TESCHLER-NICOLA SYNDROME [J].

RAFFEL, LJ ;

MOHANDAS, T ;

RIMOIN, DL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (04) :607-611

← 1 2 →