title: A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p).
abstract: In a girl presenting with features of Wolf-Hirschhorn syndrome, cytogenetic and molecular cytogenetic analysis revealed a rearranged chromosome 4 with monosomy of the distal bands 4pter-->4p16.2 and trisomy of the distal bands 4q35.1-->4qter [rec dup(4q)] due to a large, paternal pericentric inversion. In the following two pregnancies, prenatal diagnosis showed the same imbalance in one fetus and a reverse segmental imbalance [rec dup(4p)] in the other. We discuss the recombination risk of the given inversion with respect to the size of the inverted segment and the viability of the recombinants. The high frequency of recombinants in this family and others suggests a high recurrence risk in similar cases with large pericentric inversions comprising almost entire chromosomes.
authors.affiliation: Division of Medical Genetics, University of Tübingen, Tübingen, Germany. andreas.dufke@uni-tuebingen.de
authors.forename: A
authors.initials: A
authors.lastname: Dufke
authors.forename: K
authors.initials: K
authors.lastname: Eggermann
authors.forename: S
authors.initials: S
authors.lastname: Balg
authors.forename: S
authors.initials: S
authors.lastname: Stengel-Rutkowski
authors.forename: H
authors.initials: H
authors.lastname: Enders
authors.forename: P
authors.initials: P
authors.lastname: Kaiser
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D001321:Autistic Disorder / Q000235:genetics; D002503:Centromere / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009006:Monosomy / Q000235:genetics*; D010375:Pedigree; D011296:Prenatal Diagnosis; D011995:Recombination, Genetic / Q000235:genetics*; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*