Naslov
De novo case of a partial trisomy 4p and a partial monosomy 8p

Autori
Škrlec, Ivana ; Wagner, Jasenka ; Pušeljić, Silvija ; Heffer, Marija ; Stipoljev, Feodora

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

Izvornik
Chromosome Research / - , 2011, S58-S58

Skup
8th European cytogenetics conference

Mjesto i datum
Porto, Portugal, 02.07.2011. - 05.07.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
partial trisomy 4p ; partial monosomy 8 ; FISH

Sažetak
Phenotypes in patients with segmental aneuploidy often vary in their clinical manifestation depending on the size of the chromosomal region involved. Recently defined microdeletion syndrome 8p23.1 is characterized by congenital heart disease, developmental delay and a characteristic behavior profile with hyperactivity and impulsiveness. On the other hand, more than 75 cases of trisomy 4p have been reported thus far, most of them due to unbalanced translocations. Trisomy 4p has been shown to cause a characteristic phenotype associated with characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly and various major and minor anomalies. The large variability of the phenotype in trisomy 4p syndrome may be explained by the variation in length of the duplicated segments. Here we present clinical and cytogenetic findings in a 5-month old boy with a duplication of a chromosomal segment 4p16.1→4pter and a deletion of a chromosomal segment 8p23.1→8pter. His karyotype is determined by applying classical GTG banding and FISH probes (WHSCR region, cen 4, cen 8, tel 8p): 46, XY, der(8)t(4 ; 8) (4pter→4p16.1::8p23.1→8qter)dn. Patient’s parents are not related and have normal karyotypes. We have compared similarity of the clinical features of our patient to other patients carrying a duplication of the distal part of 4p and patients carrying a deletion of distal part of 8p as described in the literature. To the best of our knowledge, until today there has been only one report of a combination of dup4p and del8p syndrome. Compared to mentioned case, our patient has less severe manifestations, probably due to a more distal 4p trisomy.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

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