Trisomy 13 mosaicism at prenatal diagnosis: Dilemmas in interpretation

被引：0
|
作者：
Delatycki, MB
Pertile, MD
Gardner, RJM
机构：
[1] Royal Childrens Hosp, Victorian Clin Genet Serv, Parkville, Vic 3052, Australia
[2] Royal Hosp Women, Dept Cytogenet, Melbourne, Vic, Australia
来源：
PRENATAL DIAGNOSIS | 1998年 / 18卷 / 01期
关键词：
trisomy; 13; mosiacism; prenatal diagnosis; pseudomosaicism;
D O I：
10.1002/(SICI)1097-0223(199801)18:1<45::AID-PD216>3.0.CO;2-C
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe six cases of trisomy 13 mosaicism detected al prenatal diagnosis. Most level I and level II trisomy 13 mosaicism detected at prenatal diagnosis is pseudomosaicism or confined placental mosaicism. Rarely, low-level mosaicism at chorionic villus sampling or amniocentesis reflects a true fetal mosaicism. In this case, a normal phenotype is a possible, but not a certain, outcome. Genetic counselling is not straightforward. (C) 1998 John Wiley & Sons, Ltd.
引用
收藏
页码：45 / 50
页数：6
相关论文
共 50 条
  • [1] Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
    Huijsdens-van Amsterdam, Karin
    Barge-Schaapveld, Daniela Q. C. M.
    Mathijssen, Inge B.
    Alders, Marielle
    Pajkrt, Eva
    Knegt, Alida C.
    [J]. MOLECULAR CYTOGENETICS, 2012, 5
  • [2] Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
    Karin Huijsdens-van Amsterdam
    Daniela QCM Barge-Schaapveld
    Inge B Mathijssen
    Mariëlle Alders
    Eva Pajkrt
    Alida C Knegt
    [J]. Molecular Cytogenetics, 5
  • [3] Prenatal diagnosis of mosaicism for triploidy and trisomy 13
    Phelan, MC
    Rogers, RC
    Michaelis, RC
    Moore, CL
    Blackburn, W
    [J]. PRENATAL DIAGNOSIS, 2001, 21 (06) : 457 - 460
  • [4] PRENATAL DIAGNOSIS AND MOLECULAR ANALYSIS OF TRISOMY 13 MOSAICISM
    Chen, Chih-Ping
    Chern, Schu-Rern
    Tsai, Fuu-Jen
    Lin, Hung-Hung
    Pan, Chen-Wen
    Wang, Wayseen
    [J]. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2009, 48 (03): : 321 - 322
  • [5] Mosaicism trisomy 12: prenatal diagnosis
    Bazin, A
    Audibert, F
    Dommergues, M
    Mossafa, H
    SzpiroTapia, S
    [J]. CYTOGENETICS AND CELL GENETICS, 1997, 77 (1-2): : P139 - P139
  • [6] Prenatal diagnosis of trisomy 3 mosaicism
    Zaslav, A
    Pierno, G
    Fougner, A
    Jacob, J
    Kazi, R
    Blumenthal, D
    Sturim, S
    Shaham, M
    Davis, J
    Fox, J
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 594 - 594
  • [7] Prenatal diagnosis of trisomy 17 mosaicism
    Witters, Ingrid
    Cannie, Mieke
    Fryns, Jean-Pierre
    [J]. PRENATAL DIAGNOSIS, 2007, 27 (07) : 677 - 678
  • [8] Prenatal diagnosis of trisomy 4 mosaicism
    Zaslav, AL
    Blumenthal, D
    Willner, JP
    Pierno, G
    Jacob, J
    Fox, JE
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 95 (04): : 381 - 384
  • [9] Prenatal diagnosis of trisomy 6 mosaicism
    Destree, A
    Fourneau, C
    Dugauquier, C
    Rombout, S
    Sartenaer, D
    Gillerot, Y
    [J]. PRENATAL DIAGNOSIS, 2005, 25 (05) : 354 - 357
  • [10] Prenatal diagnosis of trisomy 3 mosaicism
    Zaslav, AL
    Pierno, G
    Davis, J
    Fougner, A
    Jacob, J
    Kazi, R
    Blumenthal, D
    Sturim, S
    Shaham, M
    Fox, J
    [J]. PRENATAL DIAGNOSIS, 2004, 24 (09) : 693 - 696
12345