How to Cite this Article: Petriczko E, Biczysko-Mokosa A, Bogdanowicz J, Constantinou M, Zdzieniecka E, Horodnicka-Jozwa A, Barg E, Gawlik-Zawislak S, Sulek-Piatkowska A, Dawid G, Walczak M, Pesz K, Kedzia A, Zajaczek St. 2012. Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features. Am J Med Genet Part A. 158A:1442–1446.
Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features†
Article first published online: 11 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 6, pages 1442–1446, June 2012
How to Cite
Petriczko, E., Biczysko-Mokosa, A., Bogdanowicz, J., Constantinou, M., Zdziennicka, E., Horodnicka-Jozwa, A., Barg, E., Gawlik-Zawislak, S., Sulek-Piatkowska, A., Dawid, G., Walczak, M., Pesz, K., Kedzia, A. and Zajaczek, S. (2012), Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features. Am. J. Med. Genet., 158A: 1442–1446. doi: 10.1002/ajmg.a.35345
- Issue published online: 17 MAY 2012
- Article first published online: 11 MAY 2012
- Manuscript Accepted: 30 JAN 2012
- Manuscript Received: 30 APR 2010
Additional Supporting Information may be found in the online version of this article.
|ajmg_35345_sm_SupplFig1.tif||91K||Fig. 1: Results of cytogenetic analyses of the affected son. A. Standard GTG banding. Chromosome pairs 3 and 4 are indicated with an arrow. B. FISH with 3p and 3q telomere probes. The lack of 3p telomeric probe signal is indicated with an arrow. C. FISH with telomere 4p and 4q probes. An additional signal of the 4q telomeric probe is indicated with an arrow. The final karyotype was: 46,XY,der(3)t(3;4)(p25;q31.3).ish der(3)t(3;4)(p26.3-,q35.2+)(D3S4559-,D4S2930+)|
|ajmg_35345_sm_SupplFig2.tif||241K||Fig. 2: Partial monosomy of the short arm of chromosome 3p in the patient (A) and his father (B) by aCGH.|
|ajmg_35345_sm_SupplFig3.tif||357K||Fig. 3: Partial trisomy of the long arm of chromosome 4q in the patient (A) and his father (B) as shown by aCGH.|
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