Naslov
Double translocations in prenatal diagnosis

Autori
Tonković Đurišević , Ivana ; Crkvenac Gornik, Kristina ; Mužinić, Dubravka ; Letica, Ljiljana ; Lasan, Ružica ; Begović, Davor

Izvornik
European journal of human genetics (1018-4813) 13 (2005), 1;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
Double translocations; Prenatal diagnosis

Sažetak
We report one case of a maternal double reciprocal translocation 46, X X, t(4 ; 11)(q31 ; q23), t(5 ; 8)(q35 ; q22) ascertainment through an offspring with partial trisomy 11q and partial monosomy 4q, karyotype of 46, XX, der(4)t(4 ; 11)(q31 ; q23), t(5 ; 8)(q35 ; q22)mat. The second child was healthy 46, XX girl. Cytogenetic analysis of cultured amniotic .uid cells with GTG banding in following pregnancy showed an unbalanced 46, XX, der(11)t(4 ; 11)(q31 ; q23), t(5 ; 8)(q35 ; q22)mat karyotype. The parents decided to terminate the pregnancy. The normal karyotype 46, XX was also detected prenatally by amniocentesis in fourth pregnancy. A second case presents mother with a karyotype 46, XX, t(4 ; 9)(p14 ; p24), and the father 46, XY, t(1 ; 5)(p11 ; p11) karyotype. A case of multiple congenital anomalies in a female newborn was found to be associated with partial trisomy 4p and partial monosomy 9q. The karyotype was 46, XX, t(1 ; 5)(p11 ; p11)pat, der(9)t(4 ; 9)(p14 ; p24)mat. The unbalanced karyotype was detected prenatally in a fetus by amniocentesis in third pregnancy: 46, XY, der(9)t(4 ; 9)(p14 ; p24)mat. The pregnancy was terminated. Cytogenetic analysis of cultured amniotic .uid cells in following pregnancy showed double balanced translocation 46, XY, t(1 ; 5)(p11 ; p11)pat, t(4 ; 9)(p14 ; p24)mat. A review of the literature indicates that the risk of having unbalanced offspring is similar in couples in which both parents have a balanced translocation and in couples in which one partner is a translocation carrier. That result from very early spontaneous abortion of mutually unbalanced conceptuses. The fact that the mother with double translocation, and the couple with different balanced reciprocal translocation, has the healthy children indicates the importance of genetic counseling and prenatal diagnosis in cases of double translocations.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA