Familial complex chromosome rearrangement ascertained by in situ hybridisation

C. Fuster, L. Miguez, R. Miró, M. A. Rigola, A. Perez, J. Egozcue

Producción científica: Contribución a una revistaArtículoInvestigaciónrevisión exhaustiva

18 Citas (Scopus)


A complex familial chromosome translocation has been ascertained by combining classical cytogenetics and CISS (chromosomal in situ suppression). Cytogenetic analysis of a chorionic villus sample with G banding showed a 47,XX,-2, +der(2)t(2;22), +der(22)t(2;22) karyotype. Analysis of peripheral blood lymphocytes from the parents by G banding and CISS showed a more complex translocation in the father: 46,XY,-2,-11,-22, +der(2) t(2;11)(q13;q23), +der(11) t(11;22) (q23; q11.2), +der(22) t(2;22) (q13;q11.2). Definitive analysis of cultured amniotic fluid cells showed a double partial trisomy of chromosomes 11 and 22. The couple decided to continue the pregnancy. The fetal karyotype was confirmed at birth. Clinical abnormalities present in our patient were typical of an unbalanced 11;22 translocation. Our findings confirm that chromosome painting techniques allow a better characterisation of complex chromosome rearrangements which may be difficult to detect in G banded karyotypes.
Idioma originalInglés
Páginas (desde-hasta)164-166
PublicaciónJournal of Medical Genetics
EstadoPublicada - 25 feb 1997


Profundice en los temas de investigación de 'Familial complex chromosome rearrangement ascertained by in situ hybridisation'. En conjunto forman una huella única.

Citar esto