Naslov
Partial trisomy 12p and deletion 5p: an overlap of dysmorphic features

Autori
Morožin Pohovski, Leona ; Barišić, Ingeborg ; Sansović, Ivona ; Petković, Iskra

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

Izvornik
European Journal of Human Genetics / Van Ommen, Gert-Jan B. - Leiden : Nature publishing group, 2007

Skup
European Human Genetics Conference

Mjesto i datum
Nica, Francuska, 16.06.2007. - 19.06.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
trisomy 12p; deletion 5p; dysmorphic feature; chromosomopathy

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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