[en] We report a severely mentally retarded, dysmorphic girl aged 7 years with a 47,XX, +der(18), t(10;18)(p11.2;q11.2)mat. The phenotype of our patient is compared with 6 cases of trisomy 10p and 10 cases of trisomy 18q- from the literature. The short trisomic segment 10pter-10p11 appears to affect more the phenotype than the trisomic segment 18qter-q11.
Disciplines :
Genetics & genetic processes
Author, co-author :
Lapiere, J. C.
Verloes, Alain ; Université de Liège - ULiège > Génétique générale et humaine
Herens, Christian ; Centre Hospitalier Universitaire de Liège - CHU > PLAN COS
