Naslov
De novo case of a mosaic small supernumerary marker chromosome leading to proximal partial trisomy 5p

Autori
Škrlec, Ivana ; Pušeljić, Silvija ; Heffer, Marija ; Liehr Thomas ; Wagner, Jasenka

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

Izvornik
Eur J Hum Genet / - , 2014, 271-271

Skup
European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects Of Genetics (EMPAG) and the Italian Society Of Human Genetics (SIGU)

Mjesto i datum
Milano, Italija, 31.05.2014. - 03.06.2014

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
small supernumerary marker chromosome ; trisomy 5p

Sažetak
Small supernumerary marker chromosomes (sSMC) are structurally abnormal parts of the karyotype with unknown origin that may arise de novo or be inherited from parents. ~70% of people with sSMC grow and develop normally, while 30% show different clinical signs and symptoms. Here we present the clinical and cytogenetic findings in a 1-year-old female referred for genetic evaluation because of dysmorphic features, including hypotonia, umbilical hernia, hypertelorism, broad nasal bridge, microretrognathia, low set ears, and wide spaced nipples. Cytogenetic examination of GTG banded metaphases showed a female karyotype with mosaicism of an sSMC. Additional molecular cytogenetics analysis (cenM-FISH and subcenM- FISH) characterized the sSMC to be derived from chromosome 5 including heterochromatic and euchromatic material. The shape of sSMC was not clearly to define ; either it is a ring or centric minute. The karyotype can be reported as : mos 47, XX, 1qh+pat, +der(5)?r(5)(::p1?4→q11.1::) [3]/der(5)?min(5)(:p1?4→q11.1:) [1]dn[38]/46, XX, 1qh+pat[62]. Proband’s twin sister and parents have normal karyotypes with respect to the sSMC. According to the literature, there are several cytogenetically similar cases described but with different clinical features. The most cases of proximal partial trisomy 5p arose in connection with familial translocations, while just five cases are due to a pure sSMC(5). The critical region for trisomy 5p syndrome seems to be located in the distal part of the short arm as the symptoms are similar to those seen in cases with pure trisomy 5pter to 5p13. The most common features are mental retardation, facial dysmorphism and hypotonia according to webpage “Small supernumerary marker chromosomes” (http://ssmc- tl.com/sSMC.html).

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

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