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1

Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype

100%
Lassota M., Przelozna B., Plodzien M., Bugno M., Wnuk M., Kotylak Z., Slota E.
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EN
In this case report we present a child with an additional chromosome in the karyotype. The karyotypes of the boy and his parents were analyzed by use of a conventional banding technique (GTG) and fluorescence in situ hybridization (FISH). Probes painting whole chromosomes 12 and 18 were used in FISH. Cytogenetic examination of the parents revealed that his mother was carrying balanced reciprocal translocation between chromosomes 12 and 18. Her karyotype was described as 46,XX,t(12;18)(p13;q12). Father's karyotype was normal, described as 46,XY. The boy's karyotype was defined as 47,XY,+der(18)t(12;18)(p13;q12). The additional chromosome appeared probably due to 3:1 meiotic disjunction of the maternal balanced translocation, known as tertiary trisomy. The mother displayed a normal phenotype and delivered earlier a healthy child. However, the boy with the unbalanced karyotype shows multiple congenital abnormalities.
2

A new case of reciprocal translocation t(10;13)(q16;q21) diagnosed in an AI boar

88%
Danielak-Czech B., Slota E.
Journal of Applied Genetics
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2007
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vol. 48
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issue 4
379-382
EN
A new case of reciprocal translocation t(10;13)(q16;q21) was detected in a hybrid boar (Large White ? Pietrain ? Duroc ? Hampshire) from an artificial insemination (AI) station. Altogether, 258 sires of 4 pure breeds as well as hybrid lines and crossbreeds were investigated. The diagnosis was based on classical cytogenetic examination following the standard protocols of lymphocyte cultures, Giemsa staining and G-, C- and Ag-I banding techniques. The population screening performed was an initial part of a long-term karyotype control system of boars kept at AI stations, which was started by the National Research Institute of Animal Production in Poland in 2007.
3

Decrease in pig fertility as a result of reciprocal translocations and associated economic effects on the basis of rcp(7;13)(q13;q46)

88%
Danielak C. B., Kozubska S. A., Slota E., Rejduch B.
Journal of Applied Genetics
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1996
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vol. 37
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issue 4
373-384
EN
Reciprocal translocations, very frequently identified in pigs, are the cause of fertitlity decrease. The aim of this work was to provide an objective assessment of the real effect of reciprocal translocation (7;13) on the fertility of carriers and associated economic effects. The experiment has shown that fertility, expressed as a mean litter size, decreased by 48% in comparison to that of the control group. On the basis of simulation account, financial losses incurred a translocation as a result of using carrying boar in a commercial herd were estimated at about 8,000 USD for natural mating and at about 162,000 USD for artificial insemination. The results obtained show the need for introducing a system for cytogenetic control of boars producing small litters into the Polish swine improvement programme.
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