engleski

FOUR FAMILIES WITH DIFFERENT TRIPLOIDY IN CONSECUTIVE PREGNANCIES

Aneuploidy is the second major category of chromosome abnormality. There is no clear explanation of cell mechanism of repetitive aneuploidy but there are several mechanisms to explain aneuploidy, such as maternal age, gonadal mosaicism, mosaicism of sex chromosomes and gene distribution, that is a genetic predisposition of chromosomes nondisjunction. A possible indicator of this could be the frequency of satellite association of acrocentric chromosomes. We present 4 couples with repeated trisomy of different chromosomes (18, 13 and 21) in successive pregnancies. Trisomies were detected by the analysis of amniotic fluid (amniocentesis), peripheral blood from a newborn child or by isolating DNA from paraffin-embedded tissue of a stillborn child. Analysed couples have normal karyotypes and family history data on spontaneous abortions or sterile marriages. One couple does not have healthy offsprings and in the first pregnancy was born a child with karyotype 47, XX+18, but quickly dies. After four years a couple gets a child with 47, XX, +13, rob (13 ; 13) (q10, q10), which is still alive. The other three couples have a healthy child followed by subsequent pregnancy with trisomy of chromosome 13 and 21/18, then 21/ 13 and 21.

aneuploidy, trisomy

nije evidentirano