Naslov
A rare variant chromosome 14p-

Autori
Buretić-Tomljanović, Alena ; Radojčić Badovinac, Anđelka ; Vlastelić, Ivica ; Randić, Ljiljana

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

Izvornik
Drugi hrvatski kongres iz humane genetike s međunarodnim sudjelovanjem : knjiga sažetaka ; u: Paediatria Croatica 42 (1998) (S3) / Ana Stavljević Rukavina - Zagreb, 1998, 28-28

Skup
Hrvatski kongres iz humane genetike s međunarodnim sudjelovanjem (2 ; 1998)

Mjesto i datum
Zagreb, Hrvatska, 21.10.1998. - 24.10.1998

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Chromosome 14; heteromorphism; variant

Sažetak
The heteromorphism of human acrocentric chromosomes has been fully chracterized recently. Short arms of those chromosomes vary considerably in size, flourescence intensity and molecular composition. We present a case of a rare new variant of chromosome 14 which had apparently lost the entire short arm. The chromosome has been found in a male spouse of a couple with two spontaneous abortions and no other pregnancy outcome. Clinical analysis showed asthenozoospermia as an only clinical feature found in the couple. The variant chromosome was mitotically stable and visible in all metaphases analyzed. This prove that 14p- chromosome retained its centromere and kinetochore regions. According to our knowledge, two similar variants were described only for chromosome 21. Both 21p- variants were evaluated by amniocentesis and also found in a phenotypically normal female parent. In the lack of evidence that could associate chromosome 14p- with clinical consequences in our patient, we report the variant chromosome as extreme heteromorphism.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA