Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes

被引：12

作者：

Pettenati, MJ ^{[1
]}

Von Kap-Herr, C

Jackle, B

Bobby, P

Mowrey, P

Schwartz, S

Rao, PN

Rosnes, J

机构：

[1] Wake Forest Univ, Sch Med, Dept Pediat, Med Genet Sect,Med Ctr Blvd, Winston Salem, NC 27157 USA

[2] Lab Corp Amer, Res Triangle Pk, NC USA

[3] Case Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA

[4] Case Western Reserve Univ, Ctr Human Genet, Cleveland, OH 44106 USA

[5] Univ Hosp Cleveland, Cleveland, OH 44106 USA

[6] Univ Calif Los Angeles, Dept Pathol, Los Angeles, CA 90024 USA

[7] Wake Forest Univ, Sch Med, Dept Obstet & Gynecol, Winston Salem, NC 27109 USA

来源：

PRENATAL DIAGNOSIS | 2002年 / 22卷 / 03期

关键词：

prenatal diagnosis; interphase; reciprocal translocations;

D O I：

10.1002/pd.282

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular-cytogenetic analysis of terminal chromosome rearrangements. In a prospective study. we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian chromosome translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced chromosome anomalies of a fetus that could result from parental translocations. Copyright (C) 2002 John Wiley Sons, Ltd.

引用

页码：193 / 197

页数：5

共 32 条

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