Naslov
Paternal origin of der(X)t(X ; 6) in a girl with trisomy 6p

Autori
Petković, Iskra ; Barišić, Ingeborg ; Bago, Ružica ; Hećimović, Silva

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

Izvornik
European Human Genetics Conference 2002 in conjunction with EMPAG 2002 - European Meeting on Psychosocial Aspects of Genetics 2002. : Abstracts. European Journal of Human Genetics. 10(Suppl 1), 2002 / - , 2002, 143-143

Skup
European Human Genetics Conference 2002 in conjunction with EMPAG 2002 - European Meeting on Psychosocial Aspects of Genetics 2002

Mjesto i datum
Strasbourg, Francuska, 25.05.2002. - 28.05.2002

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
chromosome 6; chromosome X; reciprocal translocations

Sažetak
Here we report on the girl with trisomy 6p due to unbalanced t(X ; 6) and unusual mosaicism involving abnormalities of chromosomes 6 and 10 in the mother. Our patient is 6-year-old girl with moderate mental retardation, short stature, failure to thrive and mild facial dysmorphism. The chromosome analysis of the proband showed a 46, X, der(X)t(X ; 6)(q22 ; p11) karyotype. The derived X was late replicating in all investigated cells with variable spreading of X chromosome inactivation onto translocated 6p. The normal karyotype was observed in the father, while the mother presented 46, XX/46, XX, der(10)t(6 ; 10)(p11 ; p11). The mother is a mosaic with unbalanced t(6 ; 10) in 4.7% of cells. To the best of our knowledge, this unusual mosaicism has not been reported yet. We suggest that chromosome constitution in the mother is due to postzygotic recombination involving chromosome 6 and 10 at S/G2 phase of the cell cycle. In order to understand the mechanism of formation of der(X) in the proband we performed DNA polymorphism analysis. The molecular analysis revealed that chromosomes X and 6 involved in the rearangement are of paternal origin.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Javno zdravstvo i zdravstvena zaštita

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