AI Article Synopsis
- A chromosome analysis from a chorionic villus biopsy revealed an additional derivative chromosome 8 in a mother who carried a balanced reciprocal translocation between chromosomes 8 and 9.
- The genetic configurations during meiosis resulted in a 3:1 segregation that produced an unbalanced chromosome set, leading to increased nuchal translucency observed during fetal ultrasound at 13 weeks.
- The final karyotype indicated a tertiary trisomy, which prompted the parents, after genetic counseling, to choose to terminate the pregnancy due to the risks associated with the unbalanced segregation.
Article Abstract
An additional derivative chromosome 8 was found in the cytogenetic analyses of the chorionic villus biopsy specimen of a balanced reciprocal translocation carrier mother. This was a 3:1 segregation of the unbalanced product of the balanced maternal 8:9 translocation. The chromosomes of the carrier of the balanced reciprocal translocation pair with their matching homologous segments at meiosis I, a quadrivalent figure is formed and chromosomes segregate from this configuration. Increased nuchal tranaslucency was also determined on fetal sonography at the 13(rd) week of gestation. The final karyotype was 47,X Y,+der(8)t(8;9)(q11.2;p22) mat, and the parents were informed about this tertiary trisomy. After genetic counseling, the parents decided to terminate the pregnancy. The presented case is a reminder of the probability of the unbalanced products of the 3:1 segregation, rather than the common 2:2 segregation.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939278 | PMC |
| http://dx.doi.org/10.5152/jtgga.2011.42 | DOI Listing |
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