How to cite this article: Freitas EL, Gribble SM, Simoni M, Vieira TP, Silva-Grecco RL, Balarin MAS, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, van Haeringen A, Carter NP, Gil-da-Silva-Lopes VL. 2011. Maternally inherited partial monosomy 9p (pter p24.1) and partial trisomy 20p (pter p12.1) characterized by microarray comparative genomic hybridization. Am J Med Genet Part A 155: 2754–2761.
Maternally inherited partial monosomy 9p (pter p24.1) and partial trisomy 20p (pter p12.1) characterized by microarray comparative genomic hybridization†
Article first published online: 21 SEP 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2754–2761, November 2011
How to Cite
Freitas, É. L., Gribble, S. M., Simioni, M., Vieira, T. P., Silva-Grecco, R. L., Balarin, M. A. S., Prigmore, E., Krepischi-Santos, A. C., Rosenberg, C., Szuhai, K., van Haeringen, A., Carter, N. P. and Gil-da-Silva-Lopes, V. L. (2011), Maternally inherited partial monosomy 9p (pter p24.1) and partial trisomy 20p (pter p12.1) characterized by microarray comparative genomic hybridization. Am. J. Med. Genet., 155: 2754–2761. doi: 10.1002/ajmg.a.34168
- Issue published online: 20 OCT 2011
- Article first published online: 21 SEP 2011
- Manuscript Accepted: 22 MAY 2011
- Manuscript Received: 3 NOV 2009
- FAPESP. Grant Number: 05/03480-7
- Wellcome Trust. Grant Number: WT077008
- multiple congenital anomalies;
- chromosomal aberration;
- monosomy 9p;
- trisomy 20p
We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1–p24.3 region and a 14.83 Mb duplication in the 20p12.1–p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions. © 2011 Wiley Periodicals, Inc.