THE INCIDENCE AND TYPE OF CHROMOSOMAL
TRANSLOCATIONS FROM PRENATAL DIAGNOSIS
OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA
Vasilevska M1,*, Ivanovska E1, Kubelka Sabit K1, Sukarova-Angelovska E2, Dimeska G3
*Corresponding Author: Marinela Vasilevska, M.Sc., Department of Diagnostic Laboratories, Clinical Hospital
Acibadem-Sistine, Skupi 5A, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3099-511; Fax: +389-2-
3099-599; vasilevskam@acibademsistina.com.mk
page: 23
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Abstract
Robertsonian and reciprocal chromosomal translocations
are the most frequent type of structural chromosomal
aberrations in the human population. We
report the frequency and type of detected translocations
in 10 years of prenatal diagnosis of 3800 prenatal
samples. The materials came from amniocentesis and
chorionic villus samples (CVS). We detected seven
Robertsonian translocations (0.18%), eight autosomal
reciprocal translocations (0.21%) and one sex chromosome
translocation (0.03%). The overall frequency
of all translocations was 0.42%. Balanced state translocations
were 0.29% and the frequency of translocations
in an unbalanced state was 0.13%. There
was one balanced de novo X-autosome translocation
[46,X,t(X;10)(p11.23;q22.3)] and one balanced double
translocation [46,XX,t(1;21);t(7;16)(1p21; 21q11)
(7q31;16q23)] inherited from the mother. Most of the
detected translocations were the result of unknown
familial translocations, but some of them had been
previously detected in one of the parents. In order to
detect the recurrence risk for future pregnancies, we
proposed genetic counseling in each of the cases and
we established whether the parents were heterozygous
for the same translocation. Histopatological findings
for some unbalanced translocations correlated with
phenotypes of detected unbalanced karyotypes.
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