How to Cite this Article: Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan S R., Reid J, Basik M, McGowan-Jordan J, Graham G E. 2011. Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication. Am J Med Genet Part A 155:885–891.
Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication†
Article first published online: 17 MAR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 4, pages 885–891, April 2011
How to Cite
Argiropoulos, B., Carter, M., Brierley, K., Hare, H., Bouchard, A., Al-Hertani, W., Ryan, S. R., Reid, J., Basik, M., McGowan-Jordan, J. and Graham, G. E. (2011), Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication. Am. J. Med. Genet., 155: 885–891. doi: 10.1002/ajmg.a.33918
- Issue published online: 24 MAR 2011
- Article first published online: 17 MAR 2011
- Manuscript Accepted: 22 DEC 2010
- Manuscript Received: 4 FEB 2010
- mosaic ring chromosome 19;
- 7q36 deletion;
- 7p22 duplication;
- Sonic hedgehog;
- Engrailed 2;
We report on a patient with severe intellectual disability, microcephaly, short stature, and dysmorphic features who, based on standard karyotyping, has two cytogenetic abnormalities: an apparently balanced paracentric inversion of chromosome 7, inv(7)(q31.2q36), and a small supernumerary ring chromosome derived entirely of material from chromosome 19. While the inversion was detected in all cells, mosaicism was observed for the ring chromosome. Interestingly, apparently identical cytogenetic abnormalities were detected in the patient's mother, who presented with normal stature, few dysmorphic features, and normal cognition without microcephaly. While the level of mosaicism could not adequately explain the phenotypic discordance, comparative genome hybridization revealed a de novo terminal deletion of chromosome 7, del(7)(q36.2), and a terminal duplication of chromosome 7, dup(7)(p22.1) in the patient. Additional cytogenetic investigation revealed that the patient inherited a recombinant chromosome derived from a cryptic maternal pericentric inversion: inv(7)(p22q36). The patient's distinctive features are consistent with the wide phenotypic spectrum reported in 7p duplication and 7q terminal deletion syndromes. These chromosomal regions contain several candidate genes of clinical significance, including SHH, EN2, and FAM20C. Our findings strongly suggest that our patient's phenotype is largely attributable to partial 7pter trisomy and partial 7qter monosomy rather than mosaic supernumerary ring chromosome 19. © 2011 Wiley-Liss, Inc.