Nalazite se na CroRIS probnoj okolini. Ovdje evidentirani podaci neće biti pohranjeni u Informacijskom sustavu znanosti RH. Ako je ovo greška, CroRIS produkcijskoj okolini moguće je pristupi putem poveznice www.croris.hr
izvor podataka: crosbi !

De novo case of a mosaic small supernumerary marker chromosome leading to proximal partial trisomy 5p (CROSBI ID 661836)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija

Škrlec, Ivana ; Pušeljić, Silvija ; Heffer, Marija ; Liehr Thomas ; Wagner, Jasenka De novo case of a mosaic small supernumerary marker chromosome leading to proximal partial trisomy 5p // European journal of human genetics. 2014. str. 271-271

Podaci o odgovornosti

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

engleski

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

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).

small supernumerary marker chromosome ; trisomy 5p

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o prilogu

271-271.

2014.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

European journal of human genetics

1018-4813

1476-5438

Podaci o skupu

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

poster

31.05.2014-03.06.2014

Milano, Italija

Povezanost rada

Kliničke medicinske znanosti, Temeljne medicinske znanosti

Indeksiranost