Partial trisomy 12p and deletion 5p: an overlap of dysmorphic features (CROSBI ID 528576)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Morožin Pohovski, Leona ; Barišić, Ingeborg ; Sansović, Ivona ; Petković, Iskra
engleski
Partial trisomy 12p and deletion 5p: an overlap of dysmorphic features
We describe a 2-year and 11 month-old girl who presented with dysmorphic facial features, short neck, supernumerary nipples, short wide hands, clinodactyly of the fifth finger, postnatal growth retardation, generalized hypotonia and developmental delay. Detailed clinical examination did not reveal associated congenital malformations. Cytogenetic evaluation on high resolution G banding showed aberrant chromosome 5 in all metaphases. The karyotype was designated as 46, XX, der(5), t(5 ; 12)(5p15.3 ; 12p12.2)mat. Molecular analysis confirmed deletion of subtelomere 5p and trisomy of subtelomere 12p. A comparison of the clinical findings in our patient with previously described cases of pure 12p trisomies is presented. Pure trisomy 12p has a well delineated dysmorphic features and is often associated with different major malformations. Our patient did not display these typical features, phenotypic manifestations being more compatible with monosomy 5p. Rare structural rearrangements may lead to complex clinical presentations. Detailed clinical description of patients is needed in order to delineate the phenotype and improve genotype-phenotype correlation.
trisomy 12p; deletion 5p; dysmorphic feature; chromosomopathy
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
127-x.
2007.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
European journal of human genetics
van Ommen, Gert-Jan B.
Leiden: Nature publishing group
1018-4813
Podaci o skupu
European Human Genetics Conference
poster
16.06.2007-19.06.2007
Nica, Francuska