Genetik und Epigenetik des Silver-Russell-Syndroms View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2010-12

AUTHORS

S. Spengler, M. Begemann, G. Binder, T. Eggermann

ABSTRACT

Das Silver-Russell-Syndrom (SRS) ist eine angeborene Imprintingerkrankung, die in erster Linie durch eine schwere intrauterine und postnatale Wachstumsretardierung, eine relative Makrozephalie, eine dreieckige Gesichtsform und/oder Asymmetrien des Körpers gekennzeichnet ist. Ein Nachweis (epi)genetischer Veränderungen ist mittlerweile bei etwa 50% der SRS-Patienten möglich: Bei 7–10% liegt eine maternale uniparentale Disomie des Chromosoms 7 (upd(7)mat) vor, bei weiteren etwa 40% der Patienten sind (epi)genetische Veränderungen in der chromosomalen Region 11p15 nachweisbar. In Ergänzung zu konventionell-zytogenetisch erhobenen Befunden erlaubt die molekulare Karyotypisierung zunehmend den Nachweis von submikroskopischen Chromosomenstörungen bei SRS-Patienten. Da es keine klare (Epi)genotyp-Phänotyp-Korrelation gibt und die variable Ausprägung der Symptome eine sichere Diagnosestellung erschwert, sollte auch bei Patienten, die nur eine Teilsymptomatik aufweisen, eine genetische Testung in Erwägung gezogen werden. More... »

PAGES

405-410

Journal

TITLE

medizinische genetik

ISSUE

4

VOLUME

22

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s11825-010-0247-7

DOI

http://dx.doi.org/10.1007/s11825-010-0247-7

DIMENSIONS

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