A case of human chimerism detected by unbalanced chromosomal translocation.
Chimerism in humans is usually found only because of discrepancies in unique blood group typing or sex chromosome complements. We describe a case found because of an inherited chromosomal translocation. A female carrier of the balanced reciprocal translocation t(14;20)(q31;q13.3) had a twin pregnancy. After birth the B-twin, a girl, was found to have the balanced translocation. The A-twin, a severely malformed and stillborn boy, had two different karyotypes; a normal 46,XY and an unbalanced translocation derivative 46,XY,-14, +der(14)t(14;20)(q31;q13.3). He was a dispermic chimera, formed by two fertilized oocytes.
Department of Clinical Genetics, Tampere University Hospital, Finland.
R H
RH
Nyberg
A K
AK
Haapala
K O
KO
Simola
D000015:Abnormalities, Multiple / Q000235:genetics; D002678:Chimera / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14; D002890:Chromosomes, Human, Pair 20; D005121:Extremities; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D013771:Tetralogy of Fallot; D014178:Translocation, Genetic; D014427:Twins / Q000235:genetics