PMID- 11920892
OWN - NLM
STAT- MEDLINE
DCOM- 20020430
LR  - 20190906
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 22
IP  - 3
DP  - 2002 Mar
TI  - Rapid interphase analysis for prenatal diagnosis of translocation carriers using 
      subtelomeric probes.
PG  - 193-7
AB  - 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.
CI  - Copyright 2002 John Wiley & Sons, Ltd.
FAU - Pettenati, Mark J
AU  - Pettenati MJ
AD  - Department of Pediatrics, Section on Medical Genetics, Wake Forest University 
      School of Medicine, Winston-Salem, NC 27157, USA. Pettenat@wfubmc.edu
FAU - Von Kap-Herr, Chris
AU  - Von Kap-Herr C
FAU - Jackle, Bethy
AU  - Jackle B
FAU - Bobby, Peggy
AU  - Bobby P
FAU - Mowrey, Philip
AU  - Mowrey P
FAU - Schwartz, Stuart
AU  - Schwartz S
FAU - Rao, P Nagesh
AU  - Rao PN
FAU - Rosnes, Jon
AU  - Rosnes J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (DNA Probes)
SB  - IM
MH  - Amniocentesis
MH  - Aneuploidy
MH  - Chorionic Villi Sampling
MH  - Chromosomes, Human, Pair 10
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 15
MH  - Chromosomes, Human, Pair 4
MH  - DNA Probes
MH  - Female
MH  - *Genetic Carrier Screening
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - *Interphase
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Prospective Studies
MH  - *Telomere
MH  - *Translocation, Genetic
EDAT- 2002/03/29 10:00
MHDA- 2002/05/01 10:01
CRDT- 2002/03/29 10:00
PHST- 2002/03/29 10:00 [pubmed]
PHST- 2002/05/01 10:01 [medline]
PHST- 2002/03/29 10:00 [entrez]
AID - 10.1002/pd.282 [pii]
AID - 10.1002/pd.282 [doi]
PST - ppublish
SO  - Prenat Diagn. 2002 Mar;22(3):193-7. doi: 10.1002/pd.282.