How to Cite this Article: Daber R, Chapman KA., Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB. 2011. Mosaic trisomy 17: Variable clinical and cytogenetic presentation. Am J Med Genet Part A 155:2489–2495.
Article first published online: 16 AUG 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 10, pages 2489–2495, October 2011
How to Cite
Daber, R., Chapman, K. A., Ruchelli, E., Kasperski, S., Mulchandani, S., Thiel, B. D., Hakonarson, H., Zackai, E. H., Conlin, L. K. and Spinner, N. B. (2011), Mosaic trisomy 17: Variable clinical and cytogenetic presentation. Am. J. Med. Genet., 155: 2489–2495. doi: 10.1002/ajmg.a.34172
Robert D. Daber and Kimberly A. Chapman contributed equally to this work.
- Issue published online: 20 SEP 2011
- Article first published online: 16 AUG 2011
- Manuscript Accepted: 18 MAY 2011
- Manuscript Received: 8 MAR 2011
- Medical Genetics Research Training (University of Pennsylvania). Grant Number: 5-T32-GM-008638-11
- National Institutes of Neurological Disorders and Stroke (NINDS). Grant Number: T32NS007413
- mosaic trisomy 17;
- SNP microarray analysis;
- tissue specific mosaicism
Mosaic trisomy 17 is rare with only 28 cases reported and the clinical presentation is highly variable. The diagnosis is most commonly made by prenatal karyotype and in most cases is followed by a normal postnatal karyotype on blood lymphocytes. We present two cases of mosaic trisomy 17 diagnosed prenatally, with follow up in multiple tissues at birth. In the first case, trisomy 17 was identified in all amniocytes, and at birth standard results of chromosome analysis in peripheral blood were normal, but mosaic trisomy 17 was identified (50–75%) in skin fibroblasts by genome-wide SNP array analysis. This patient presented with congenital heart disease, asymmetry, intestinal malrotation, and other anomalies and died on day 9 of life. In the second patient amniocentesis after ultrasound finding of tetralogy of Fallot showed mosaic trisomy 17. Postnatally, results of a SNP array were normal in blood, buccal mucosa, and skin. It is possible that the cardiac defect is related to trisomy 17 in key tissues during heart development, although at birth the aneuploidy could not be identified in tissues that are routinely analyzed for diagnosis. These cases add to our understanding of mosaic trisomy 17, highlighting the failure to diagnose this aneuploidy in peripheral blood. © 2011 Wiley-Liss, Inc.