Journalartikel

Jahr der Veröffentlichung: 2014

Zeitschrift: Molecular Cytogenetics

Bandnummer: 7

ISSN: 1755-8166

Open Access Status: Gold

DOI Link: https://doi.org/10.1186/s13039-014-0094-3

Verlag: BioMed Central

Abstract: 

Background: A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems.

Results: Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, including delay of motor and speech development and intellectual disability.

Discussion: The case indicates that genes within this interval, in particular dosage sensitive genes SOX7 and TNKS1, and possibly MIR124-1 and MIR598 as well suffice to cause the pathognomonic features of the 8p23.1 duplication syndrome.

Harvard-Zitierstil: Weber, A., Koehler, A., Hahn, A. and Mueller, U. (2014) 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp, Molecular Cytogenetics, 7, Article 94. https://doi.org/10.1186/s13039-014-0094-3

APA-Zitierstil: Weber, A., Koehler, A., Hahn, A., & Mueller, U. (2014). 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp. Molecular Cytogenetics. 7, Article 94. https://doi.org/10.1186/s13039-014-0094-3