Pregled bibliografske jedinice broj: 677953
HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE
HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE // Balkan Journal of Medical Genetics, 16 (2013), 1; 13-19 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 677953 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE
Autori
Guilherme RS ; Klein E ; Hamid AB, Bhatt S ; Volleth M ; Polityko A ; Kulpanovich A ; Dufke A ; , AlbrechtB ; Morlot S ; Brečevic Lukrecija ; Petersen MB10, Manolakos E10, Kosyakova N1, Liehr T1*
Izvornik
Balkan Journal of Medical Genetics (1311-0160) 16
(2013), 1;
13-19
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
Ring chromosomes; FISH; Genotype-phenotype correlations
Sažetak
Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) previously published high resolution approaches such as multicolor banding (MCB), subcentromere-specific multi-color-FISH (cenM-FISH) and two to three-color-FISH applying locus-specific probes were used. Overall, ring chromosome derived from chromosomes 4 (one case), 10 (one case), 13 (five cases), 14, (three cases), 18 (two cases), 21 (eight cases), 22 (three cases), X (five cases) and Y (one case) were studied. Eight cases were detected prenatally, eight due developmental delay and dysmorphic signs, and nine in connection with infertility and/or Turner syndrome. In general, this report together with data from the literature, supports the idea that ring chromosome patients fall into two groups: group one with (severe) clinical signs and symptoms due to the ring chromosome and group two with no obvious clinical problems apart from infertility.
Izvorni jezik
Engleski
Znanstvena područja
Biologija
POVEZANOST RADA
Projekti:
108-1081870-1888 - MOLEKULARNA CITOGENETIKA U EVALUACIJI MENTALNE RETARDACIJE NEPOZNATE ETIOLOGIJE (Brečević, Lukrecija, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Profili:
Lukrecija Brečević
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus