title: Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2).
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.
authors.affiliation: Unité de Cytogénétique, Laboratoire de Biologie du Développement et de la Reproduction, Hôpital Robert-Debré, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Tachdjian
authors.forename: C
authors.initials: C
authors.lastname: Muti
authors.forename: J
authors.initials: J
authors.lastname: Gaudelus
authors.forename: L
authors.initials: L
authors.lastname: Druart
authors.forename: B
authors.initials: B
authors.lastname: Martin
authors.forename: E
authors.initials: E
authors.lastname: Tamboise
authors.forename: C
authors.initials: C
authors.lastname: Nessmann
mesh_terms: 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