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001-es BibID:BIBFORM011535
Első szerző:Nelle, Heike
Cím:Presence of harmless small supernumerary marker chromosomes hampers molecular genetic diagnosis : a case report / Heike Nelle, Isolde Schreyer, Elisabeth Ewers, Kristin Mrasek, Nadezda Kosyakova, Martina Merkas, Ahmed Basheer Hamid, Raimund Fahsold, Anikó Ujfalusi, Jasen Anderson, Nikolai Rubtsov, Alma Küchler, Ferdinand von Eggeling, Julia Hentschel, Anja Weise, Thomas Liehr
Dátum:2010
Megjegyzések:Mental retardation is correlated in approximately 0.4% of cases with the presence of a small supernumerary marker chromosome (sSMC). However, here we report a case of a carrier of a heterochromatic harmless sSMC with fragile X syndrome (Fra X). In approximately 2% of sSMC cases, similar heterochromatic sSMC were observed in a clinically abnormal carriers. In a subset of such cases, uniparental disomy (UPD) of the corresponding sister chromosomes was shown to be the cause of mental retardation. For the remainder of the cases, including the present one, the sSMC was just a random finding not related to the clinical phenotype. Thus, it is proposed to test patients with heterochromatic sSMC and mental retardation of unclear cause as follows: i) exclude UPD, ii) test for Fra X as it is a major cause of inherited mental retardation, and iii) perform chip-based assays or tests for special genetic diseases according to the phenotype. In any case, the diagnosis of a cytogenetic aberration such as an sSMC should not automatically be considered the resolution of a clinical case.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Molecular Medicine Reports. - 3 : 4 (2010), p. 571-574. -
További szerzők:Schreyer, Isolde Ewers, Elisabeth Mrasek, Kristin Kosyakova, Nadezda Merkas, Martina Hamid, Ahmed Basheer Fahsold, Raimund Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos) Anderson, Jasen Rubtsov, Nikolai Küchler, Alma Eggeling, Ferdinand, von Hentschel, Julia Weise, Anja Liehr, Thomas
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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