DIAGNOSTICS OF NUMERICAL CHROMOSOMAL ABERRATIONS IN THE FINDINGS OF FETAL KARYOTYPE IN THE REPUBLIC OF SRPSKA

Vanja Tomić

doi:10.7251/NS1601276T

Authors

Vanja Tomić Универзитет у Источном Сарајеву Педагошки факултет у Бијељини

DOI:

https://doi.org/10.7251/NS1601276T

Keywords:

prenatal diagnostics, numerical chromosomal abnormalities, amniocentesis

Abstract

Chromosomal aberrations represent a deviation from the normal number of chromosomes, or normal structure and can be divided into numerical and structural, which can affect autosomal and sex chromosomes. The most common autosomal numerical disorder in live born children is Down syndrome (DS), which is by its phenotypic caracteristics recognizable at birth. Other trisomies, which are compatible with the survival rate are Patau Syndrome and Edwards Syndrome. Chromosomal analysis usually reveals a classic trisomy, with Patau syndrome, trisomy 13, and in Edwards', trisomy 18. The most common chromosomal diseases of sex chromosomes are Klinefelter syndrome (KS) with chromosome constitution 47, XXY, and Turner syndrome with only one X chromosome (45, X), mainly inherited from the mother. Prenatal diagnostics of 3113 samples 1.16% of all numerical aberrations was found, of which 0.98% aberrations are related to autosomal chromosomes, and 0.015% aberrations are detected in sex chromosomes.

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