<abstract xmlns="http://www.w3.org/1999/xhtml"><p> 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</p></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

THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA

Department of Diagnostic Laboratories, Clinical Hospital Acibadem Sistina, Skopje, Republic of Macedonia

Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia

Institute of Biology, Faculty of Natural Sciences and Mathematics, Skopje, Republic of Macedonia

Balkan Journal of Medical Genetics

Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the...

THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA

Pubblicato online: 11 mar 2014

Pagine: 23 - 28

DOI: https://doi.org/10.2478/bjmg-2013-0027

Parole chiave
Human chromosomal translocations, Karyotype, Prenatal diagnosis

This content is open access.

THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA

Pubblicato online: 11 mar 2014

Pagine: 23 - 28

DOI: https://doi.org/10.2478/bjmg-2013-0027

Parole chiaveHuman chromosomal translocations, Karyotype, Prenatal diagnosis

This content is open access.

Parole chiave
Human chromosomal translocations, Karyotype, Prenatal diagnosis