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Unusual segregation of t(11 ; 22) resulting from crossing-over followed by 3:1 disjunction at meiosis I. (CROSBI ID 113189)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Petković, Iskra ; de Capoa, Adriana ; Giancotti, Paola ; Barišić, Ingeborg Unusual segregation of t(11 ; 22) resulting from crossing-over followed by 3:1 disjunction at meiosis I. // Clinical genetics, 50 (1996), 6; 515-519

Podaci o odgovornosti

Petković, Iskra ; de Capoa, Adriana ; Giancotti, Paola ; Barišić, Ingeborg

engleski

Unusual segregation of t(11 ; 22) resulting from crossing-over followed by 3:1 disjunction at meiosis I.

Reciprocal translocation t(11 ; 22)(q23 ; q11) is of particular interest because the unbalanced offspring of the translocation carriers usually present with a supernumerary derivative chromosome 22. This common unbalanced karyotype is the result of 3:1 chromosome segregation during meiosis. We report the third case of a rare segregation pattern of a paternal 11 ; 22 translocation. The proband's karyotype revealed the presence of a der(11) and two copies of a der(22), i.e. 47, XX, t(11 ; 22)(q23 ; q11), +der(22) t(11 ; 22)pat. The karyotype is the result of paternal 3:1 segregation after crossing-over involving the derived and the normal chromosome 22, as revealed by chromosome polymorphism analysis. Contrary to the preferential maternal, transmission of this common unbalanced translocation, the data from the literature, including our case, may suggest preferential paternal transmission of this rare type of unbalanced translocation.

chromosome polymorphism; chromosome segregation; rare unbalanced t(11; 22); t(11; 22)

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Podaci o izdanju

50 (6)

1996.

515-519

objavljeno

0009-9163

Povezanost rada

Kliničke medicinske znanosti

Indeksiranost