Recurrent involvement of chromosomal region 6q21 in heterotaxy.
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.
Peeters
H
H
Centre for Human Genetics, University of Leuven, Belgium.
Debeer
P
P
Groenen
P
P
Van Esch
H
H
Vanderlinden
G
G
Eyskens
B
B
Mertens
L
L
Gewillig
M
M
Van de Ven
W
W
Fryns
J P
JP
Devriendt
K
K
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