title: Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases.
abstract: We have used 20 PCR-based DNA polymorphisms to determine whether trisomy 13 due to de novo rea(13q;13q) in six cases is caused by translocation (13q;13q) or isochromosome (13q;13q); to determine the parental origin of the rearrangements and the mechanisms of formation. The six probands were three liveborn children with clinical features characteristic of Patau's syndrome and three fetuses diagnosed prenatally by amniocentesis or CVS. Five cases were isochromosomes with two identical q arms, one of maternal and four of paternal origin. Only one case was a Robertsonian translocation of maternal origin.
authors.affiliation: Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark. mb@imbg.ku.dk
authors.forename: Merete
authors.initials: M
authors.lastname: Bugge
authors.forename: Celia
authors.initials: C
authors.lastname: deLozier-Blanchet
authors.forename: Mads
authors.initials: M
authors.lastname: Bak
authors.forename: Carsten A
authors.initials: CA
authors.lastname: Brandt
authors.forename: Jens Michael
authors.initials: JM
authors.lastname: Hertz
authors.forename: Jytte Bieber
authors.initials: JB
authors.lastname: Nielsen
authors.forename: Laurance
authors.initials: L
authors.lastname: Duprez
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005333:Fetus; D006801:Humans; D007231:Infant, Newborn; D018404:Isochromosomes; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000091402:Prohibitins; D014178:Translocation, Genetic; D014314:Trisomy