title: Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes.
abstract: 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.
authors.affiliation: Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA. Pettenat@wfubmc.edu
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Pettenati
authors.forename: Chris
authors.initials: C
authors.lastname: Von Kap-Herr
authors.forename: Bethy
authors.initials: B
authors.lastname: Jackle
authors.forename: Peggy
authors.initials: P
authors.lastname: Bobby
authors.forename: Philip
authors.initials: P
authors.lastname: Mowrey
authors.forename: Stuart
authors.initials: S
authors.lastname: Schwartz
authors.forename: P Nagesh
authors.initials: PN
authors.lastname: Rao
authors.forename: Jon
authors.initials: J
authors.lastname: Rosnes
mesh_terms: D000649:Amniocentesis; D000782:Aneuploidy; D015193:Chorionic Villi Sampling; D002879:Chromosomes, Human, Pair 10; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D002894:Chromosomes, Human, Pair 4; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D016615:Telomere; D014178:Translocation, Genetic
chemical_list: D015342:DNA Probes