Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2).
The 11q;22q translocations, whatever the breakpoints may be, are of particular interest because of their propensity to 3:1 segregation of the chromosomes at meiosis I. Until now, no unbalanced karyotype resulting from 2:2 adjacent segregation was published among offspring of 11q;22q translocation carriers. The authors report the case of an unbalanced karyotype due to adjacent 1 segregation of a maternal translocation (11;22)(q23.3;q13.2). The proband's karyotype was 46,XX,-22,+der(22)(11;22)(q23.3;q13.2)mat. This finding demonstrates that adjacent 1 segregation is possible in t(11;22) with breakpoints at 11q23 and 22q13, and can lead to birth of viable infants.
Tachdjian
G
G
Unité de Cytogénétique, Laboratoire de Biologie du Développement et de la Reproduction, Hôpital Robert-Debré, Paris, France.
Muti
C
C
Gaudelus
J
J
Druart
L
L
Martin
B
B
Tamboise
E
E
Nessmann
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002880:Chromosomes, Human, Pair 11 / Q000648:ultrastructure*; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D003483:Cutis Laxa / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014178:Translocation, Genetic