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Unusual segregation for 11q;22q parental translocation in a triplet pregnancy: Prenatal diagnosis in chorionic villi and amniotic fluid
Author(s) -
Soler A.,
Carrio A.,
PerezVidal M. T.,
Borrell A.,
Fortuny A.
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970130209
Subject(s) - chromosomal translocation , amniocentesis , chorionic villus sampling , karyotype , chorionic villi , prenatal diagnosis , meiosis , amniotic fluid , andrology , pregnancy , obstetrics , gynecology , fetus , biology , medicine , genetics , chromosome , gene
The prenatal diagnosis of an 11q;22q translocation in a triplet pregnancy detected at the time of chorionic villus sampling (CVS) because of advanced maternal age is reported. Karyo‐types obtained from two apparently different CV samples showed the balanced form of translocation, while the one obtained from a third empty sac showed the unbalanced form: 46, XX, −22, + der(22)t(11;22). Second‐trimester amniocentesis confirmed the balanced translocation in one of the two viable fetuses and a normal karyotype in the other. The detected karyotypes derived from two different types of meiotic segregation, alternate and adjacent 1. To our knowledge, this is the first reported case of an unbalanced karyotype not due to a 3:1 meiotic segregation of this specific translocation.