PMID- 12949964
OWN - NLM
STAT- MEDLINE
DCOM- 20040407
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 122A
IP  - 1
DP  - 2003 Sep 15
TI  - Rapid prenatal diagnosis in translocation carriers by interphase FISH with 
      chromosome-specific subtelomere probes.
PG  - 1-5
AB  - Interphase fluorescence in situ hybridization (FISH) analysis can provide rapid 
      preliminary analysis of chromosome aneuploidy from direct amniocyte and chorionic 
      villus sample (CVS) preparations. Typically, interphase FISH is used in screening 
      for numerical abnormalities of chromosomes X, Y, 13, 18, and 21. More recently, 
      FISH probe sets became available for the subtelomeric region of each chromosome, 
      allowing screening for terminal chromosome rearrangements. The purpose of the 
      current study was to evaluate the use of dual-color interphase FISH analysis with 
      chromosome-specific subtelomere probes for rapid prenatal diagnosis in 14 
      pregnancies from 12 different translocation carriers. Interphase FISH analysis 
      was performed on direct CVS or amniocyte preparations from 12 reciprocal 
      translocation and two Robertsonian translocation pregnancies with the appropriate 
      chromosome-specific subtelomere probes for each chromosome involved in the 
      translocation. Analysis of the interphase FISH probe signals predicted balanced 
      or normal segregants in each case, thus rapidly excluding a chromosomally 
      unbalanced segregant. Subsequent metaphase analysis showed normal karyotypes in 
      seven fetuses and balanced translocations in the remaining seven. This series 
      illustrates the utility of interphase FISH analysis with chromosome-specific 
      subtelomere probes for rapid prenatal diagnosis in cases of parental reciprocal 
      translocations and Robertsonian translocations.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Cotter, Philip D
AU  - Cotter PD
AD  - Division of Medical Genetics and Department of Pathology, Children's Hospital 
      Oakland, Oakland, California 92612, USA. pcotter@itsa.ucsf.edu
FAU - Musci, Thomas J
AU  - Musci TJ
FAU - Norton, Mary E
AU  - Norton ME
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Molecular Probes)
SB  - IM
MH  - Amniocentesis
MH  - Chorionic Villi Sampling
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Molecular Probes
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - *Translocation, Genetic
EDAT- 2003/09/02 05:00
MHDA- 2004/04/08 05:00
CRDT- 2003/09/02 05:00
PHST- 2003/09/02 05:00 [pubmed]
PHST- 2004/04/08 05:00 [medline]
PHST- 2003/09/02 05:00 [entrez]
AID - 10.1002/ajmg.a.20233 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Sep 15;122A(1):1-5. doi: 10.1002/ajmg.a.20233.