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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

Morožin Pohovski, Leona ; Barišić, Ingeborg ; Sansović, Ivona ; Petković, Iskra Partial trisomy 12p and deletion 5p: an overlap of dysmorphic features // European journal of human genetics / van Ommen, Gert-Jan B. (ur.). 2007. str. 127-x

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

Povezanost rada

Kliničke medicinske znanosti

Indeksiranost