A rare variant chromosome 14p- (CROSBI ID 469463)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Buretić-Tomljanović, Alena ; Radojčić Badovinac, Anđelka ; Vlastelić, Ivica ; Randić, Ljiljana
engleski
A rare variant chromosome 14p-
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.
Chromosome 14; heteromorphism; variant
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Podaci o prilogu
28-28.
1998.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Paediatria Croatica
Ana Stavljević Rukavina
Zagreb:
1330-1403
Podaci o skupu
Hrvatski kongres iz humane genetike s međunarodnim sudjelovanjem (2 ; 1998)
poster
21.10.1998-24.10.1998
Zagreb, Hrvatska