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A rare variant chromosome 14p- (CROSBI ID 469463)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija

Buretić-Tomljanović, Alena ; Radojčić Badovinac, Anđelka ; Vlastelić, Ivica ; Randić, Ljiljana A rare variant chromosome 14p- // Paediatria Croatica / Ana Stavljević Rukavina (ur.). 1998. str. 28-28

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

nije evidentirano

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nije evidentirano

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

Povezanost rada

Javno zdravstvo i zdravstvena zaštita

Indeksiranost