Naslov
FOUR FAMILIES WITH DIFFERENT TRIPLOIDY IN CONSECUTIVE PREGNANCIES

Autori
Gunjača, I ; Kaštelan, T ; Roje, D ; Pavlinić, I ; Čulić, V

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
Abstracts of the 37th European Congress of Cytology / - , 2012

Skup
37th European Congress of Cytology

Mjesto i datum
Cavtat, Hrvatska; Dubrovnik, Hrvatska, 30.09.2012. - 03.10.2012

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
aneuploidy, trisomy

Sažetak
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.

Izvorni jezik
Engleski

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