title: Recurrent involvement of chromosomal region 6q21 in heterotaxy.
abstract: We present a patient with heterotaxy and a de novo, apparently balanced reciprocal translocation with breakpoints at 6q21 and 20p13. Another patient with heterotaxy was previously reported with a de novo balanced translocation involving chromosome band 6q21. The breakpoints in both patients on 6q21 were found to be located in the same chromosomal region spanning maximally 2 Mb. We speculate that the two breakpoints lead to the disruption of the function of a single gene, either directly or through long distance effects. Alternatively, the present observation suggests additional heterogeneity in heterotaxy in humans.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: H
authors.initials: H
authors.lastname: Peeters
authors.forename: P
authors.initials: P
authors.lastname: Debeer
authors.forename: P
authors.initials: P
authors.lastname: Groenen
authors.forename: H
authors.initials: H
authors.lastname: Van Esch
authors.forename: G
authors.initials: G
authors.lastname: Vanderlinden
authors.forename: B
authors.initials: B
authors.lastname: Eyskens
authors.forename: L
authors.initials: L
authors.lastname: Mertens
authors.forename: M
authors.initials: M
authors.lastname: Gewillig
authors.forename: W
authors.initials: W
authors.lastname: Van de Ven
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D005333:Fetus; D006343:Heart Septal Defects / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D012857:Situs Inversus / Q000473:pathology; D014178:Translocation, Genetic