Vol. 10, No 3, 2003 pp. 127 - 130
UC 575.113:616-007.2 

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BALANCED TRANSLOCATION t(5;13)(q11;q12)
IN A WOMAN WITH MALFORMED CHILD
I. Dimova, S. Lalchev, B. Zaharieva, D. Toncheva
Department of Medical Genetics, Medical Faculty, Sofia, Bulgaria

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Summary. A balanced translocation t(5;13)(q11;q12) in a phenotypically normal woman, whose first child had multiple malformations and died 13 days after birth, was discovered.
The GTG-banding technique was used to define the breakpoints in the translocation – 5q11 and 13q12 which were different from the translocations between chromosomes 5 and 13 described in the literature. The translocation was hereditary and was present in the grandmother of the malformed child. The type of segregation 3:1 was established using FISH with probes for 5p and 13q14 on tissue sections of the died child. The cells showed 3 signals for 13q14 and 2 signals for 5p.
Key words: Balanced reciprocal translocations, fetal abnormality, FISH, human cytogenetics

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BALANSIRANA TRANSLOKACIJA t(5;13)(q11;q12)
KOD ŽENE SA MALFORMISANIM DETETOM Kratak sadržaj: Otkrivena je balansirana translokacija t(5;13)(q11;12) kod fenotipski normalne žene, čije je prvo dete imalo multiple malformacije i umrlo 13 dana posle rodjenja.
Korišćena je tehnika GTG-bendinga da bi se definisala prelomna mesta translokacije - 5q11 i 13q12 koja su bila različita od translokacija izmedju hromozoma 5 i 13 opisanih u literaturi. Translokacija je bila hereditarna i prisutna kod bake deteta sa malformacijom.  Tip segregacije 3:1 je utvrdjen korišćenjem FISH sa probama za 5p i 13q14 na isečcima tkiva umrlog deteta. Ćelije su pokazivale 3 signala za 13q14 i 2 signala za 5p.
Ključne reči: Balansirane recipročne translokacije, anomalije fetusa, FISH, humana citogenetika