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

Vanja Tomić

doi:10.7251/NS1601276T

Аутори

Vanja Tomić Универзитет у Источном Сарајеву Педагошки факултет у Бијељини

##plugins.pubIds.doi.readerDisplayName##:

https://doi.org/10.7251/NS1601276T

Кључне речи:

prenatal diagnostics, numerical chromosomal abnormalities, amniocentesis

Сажетак

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.

Референце

Carpenter N. J. (2002). Molecular cytogenetics: 46 shromosomes, 46 years and counting. Nat Rev Genet 3, 769–778.

Diklić V., Kosanović M., Nikolić J., Dukić S. (2001). Biologija sa humanom genetikom. Beograd: Medicinska knjiga, Medicinske komunikacije.

Guć-Šćekić M., Radivojević D. (2009). Priručnik iz medicinske genetike. Beograd: Biološki fakultet, Altanova.

Khoshnood, B., Blondel, B., De Vigan, C., & Bréart, G. (2003). Effects of maternal age and education on the pattern of prenatal testing: Implications for the use of antenatal screening as a solution to the growing number of amniocenteses. Am J Obest Gynecol, 189, 1336–1342.

Schrock, E, Veldman, T, Ning Y. (1997). Spectral karyotyping refines cytogenetics diagnostics of constitutional chromosomal abnormalities. Hum Genet 101, 255–262.

Stipoljev F., (2004). Prenatalni probir plodova rizičnih za pojavu kromozomskih i genskih poremećaja. Paediatr. Croat; 48 (Supl 1), 192–196.

Turnpenny P., Ellard S. (2007). Emerijevi Osnovi medicinske genetike. Zagreb: Medicinska naklada.

Van Zelen-Sprock R.M., Van Vugt J.M.G., van Gejin H.P. (1992). First trimester diagnosis of cystic hygroma, course and outcome. Am J Obest Gynecol, 167, 94–98.

Yuan W., Steffansen F.H., Nielsen G.L., Mollar M., Olsen J., Sorensen H.T. (2000). A population- based chort study of birth and neonatal outcome in orded primipara. Int. J. of Gynecol & Obset, 68, 113–118