Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2). |
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| Authors: | G Tachdjian C Muti J Gaudelus L Druart B Martin E Tamboise C Nessmann |
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| Affiliation: | Unité de Cytogénétique, Laboratoire de Biologie du Développement et de la Reproduction, H?pital Robert-Debré, Paris, France. |
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| Abstract: | 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. |
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