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Page 1
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
Tomaszewska A, Podbiol-Palenta A, Boter M, Geisler G, Wawrzkiewicz-Witkowska A, Galjaard RJ, Zajączek S, Srebniak MI. Tomaszewska A, et al. Among authors: wawrzkiewicz witkowska a. Am J Med Genet A. 2013 Sep;161A(9):2347-51. doi: 10.1002/ajmg.a.36076. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918240
The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.
Tomaszewska A, Behrendt J, Boter M, Wawrzkiewicz-Witkowska A, Bos MJ, Podbiol-Palenta A, Godula-Stuglik U, Galjaard RJ, Srebniak MI. Tomaszewska A, et al. Among authors: wawrzkiewicz witkowska a. Am J Med Genet A. 2016 May;170A(5):1283-7. doi: 10.1002/ajmg.a.37565. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26789739
Another rare case of a child with de novo terminal 9p deletion and co-existing interstitial 9p duplication: clinical findings and molecular cytogenetic study by array-CGH.
Kowalczyk M, Tomaszewska A, Podbioł-Palenta A, Constantinou M, Wawrzkiewicz-Witkowska A, Kowalski J, Kałużewski B, Zajączek S, Srebniak MI. Kowalczyk M, et al. Among authors: wawrzkiewicz witkowska a. Cytogenet Genome Res. 2013;139(1):9-16. doi: 10.1159/000342165. Epub 2012 Sep 5. Cytogenet Genome Res. 2013. PMID: 22965227
Subfertile couple with t(4;22)(q23;q11.2).
Srebniak M, Popowska L, Wawrzkiewicz-Witkowska A, Tomaszewska A, Kazmierczak W. Srebniak M, et al. Among authors: wawrzkiewicz witkowska a. J Appl Genet. 2005;46(3):333-6. J Appl Genet. 2005. PMID: 16110194