How to cite this article: Van Zutven LJCM, van Bever Y, Van Nieuwland CCM, Huijbregts GCM, Van Opstal D, von Bergh ARM, Corel LJA, Tibboel D, Wouters CH, Poddighe PJ. 2009. Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review. Am J Med Genet Part A 149A:1468–1475.
Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review†
Version of Record online: 15 MAY 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 7, pages 1468–1475, July 2009
How to Cite
Van Zutven, L. J.C.M., van Bever, Y., Van Nieuwland, C. C.M., Huijbregts, G. C.M., Van Opstal, D., von Bergh, A. R.M., Corel, L. J.A., Tibboel, D., Wouters, C. H. and Poddighe, P. J. (2009), Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review. Am. J. Med. Genet., 149A: 1468–1475. doi: 10.1002/ajmg.a.32714
- Issue online: 18 JUN 2009
- Version of Record online: 15 MAY 2009
- Manuscript Accepted: 15 DEC 2008
- Manuscript Received: 15 AUG 2008
Additional supporting information may be found in the online version of this article.
|ajma_32714_sm_SuppFig1.pdf||100K||Supporting Information Figure 1: Photographs of the proband showing dysmorphic features. Visible are the mild upslanting of the eye, broad nasal bridge, long philtrum, carp-shaped mouth with thin lips, short, mildly webbed neck and low-set malformed ears. A) Frontal view B) right-sided view|
|ajma_32714_sm_SuppFig2.pdf||134K||Supporting Information Figure 2: Detection of an unbalanced fetal constitution in uncultured and cultured amniotic fluid (AF) cells. A) Interphase FISH on uncultured AF cells using FISH probes RP1-44H16 (11pter, green) and RP1-26N8 (11qter, red), and B) using CTB-124K20 (12pter, red) and RP1-221K18 (12qter, green) showed a deletion of RP1-26N8. C) GTG-banded chromosomes 4, 11 and 12 from the foetus. Arrows marked with * show normal chromosomes, the arrow marked with ! shows the der(11). D) Metaphase FISH on cultured AF cells using FISH probes RP1-44H16 (11pter, green), and RP1-26N8 (11qter, red) and E) using CTB-124K20 (12pter, red) and RP1-221K18 (12qter, green) confirmed the deletion of RP1-26N8.|
|ajma_32714_sm_SuppTable1.pdf||30K||Supporting Information Table I: Possible maternal and paternal gametes and fetal constitutions for (maternal) chromosomes 4 and 11 and (paternal) chromosomes 11 and 12.|
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