Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature

Lin,Shaobin; Zhou,Yi; Fang,Qun; Wu,Jianzhu; Zhang,Zhiqiang; Ji,Yuanjun; Luo,Yanmin

doi:10.3892/mmr.2016.5864

Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature

Authors:
- Shaobin Lin
- Yi Zhou
- Qun Fang
- Jianzhu Wu
- Zhiqiang Zhang
- Yuanjun Ji
- Yanmin Luo
View Affiliations

Affiliations: Fetal Medicine Center, Department of Obstetrics & Gynecology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China
Published online on: October 19, 2016 https://doi.org/10.3892/mmr.2016.5864
Pages: 5134-5140
Copyright: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q26 deletion syndrome. High‑resolution single‑nucleotide polymorphism analysis revealed that 10q26 terminal deletions were present in these two patients. The locations and sizes of the 10q26 deletions in these two patients were compared with the locations and sizes of 10q26 deletions in 30 patients recorded in the DECIPHER database and 18 patients characterized in previous studies through chromosomal microarray analysis. The clinical features and locations of the 10q26 deletions of these patients were reviewed in an attempt to map or refine a critical region (CR) for phenotypes. Additionally, the association between previously suggested CRs and phenotypic variability was discussed. The current study emphasize that a distal 10q26 terminal deletion with a breakpoint at ~130 Mb may contribute to the common clinical features of 10q26 deletion syndrome.

View Figures

View References

1	Lewandowski RC Jr, Kukolich MK, Sears JW and Mankinen CB: Partial deletion 10q. Hum Genet. 42:339–343. 1978. View Article : Google Scholar : PubMed/NCBI
2	Wulfsberg EA, Weaver RP, Cunniff CM, Jones MC and Jones KL: Chromosome 10qter deletion syndrome: A review and report of three new cases. Am J Med Genet. 32:364–367. 1989. View Article : Google Scholar : PubMed/NCBI
3	Schrander-Stumpel C, Fryns JP and Hamers G: The partial monosomy 10q syndrome: Report on two patients and review of the developmental data. J Ment Defic Res. 35:259–267. 1991.PubMed/NCBI
4	Irving M, Hanson H, Turnpenny P, Brewer C, Ogilvie CM, Davies A and Berg J: Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases. Am J Med Genet A 123A. 153–163. 2003. View Article : Google Scholar
5	Courtens W, Wuyts W, Rooms L, Pera SB and Wauters J: A subterminal deletion of the long arm of chromosome 10: A clinical report and review. Am J Med Genet A. 140:402–409. 2006. View Article : Google Scholar : PubMed/NCBI
6	Scigliano S, Gregoire MJ, Schmitt M, Jonveaux PH and LeHeup B: Terminal deletion of the long arm of chromosome 10. Clin Genet. 65:294–298. 2004. View Article : Google Scholar : PubMed/NCBI
7	Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, et al: Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet. 76:54–62. 2009. View Article : Google Scholar : PubMed/NCBI
8	Kehrer-Sawatzki H, Daumiller E, Müller-Navia J, Kendziorra H, Rossier E, du Bois G and Barbi G: Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)-case report and review of the literature. Prenat Diagn. 25:954–959. 2005. View Article : Google Scholar : PubMed/NCBI
9	Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, et al: Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 86:749–764. 2010. View Article : Google Scholar : PubMed/NCBI
10	Vera-Carbonell A, López-Gonzalez V, Bafalliu JA, Ballesta-Martínez MJ, Fernández A, Guillén-Navarro E and López-Expósito I: Clinical Comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies. Am J Med Genet A 167A. 786–790. 2015. View Article : Google Scholar
11	Claussen U, Michel S, Mühlig P, Westermann M, Grummt UW, Kromeyer-Hauschild K and Liehr T: Demystifying chromosome preparation and the implications for the concept of chromosome condensation during mitosis. Cytogenet Genome Res. 98:136–146. 2002. View Article : Google Scholar : PubMed/NCBI
12	Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH and Pevsner J: Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. Am J Med Genet A 149A. 669–680. 2009. View Article : Google Scholar
13	Choucair N, Ghoch J Abou, Fawaz A, Mégarbané A and Chouery E: 10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies. Am J Med Genet A 167A. 2707–2713. 2015. View Article : Google Scholar
14	Plaisancié J, Bouneau L, Cances C, Garnier C, Benesteau J, Leonard S, Bourrouillou G, Calvas P, Vigouroux A, Julia S and Bieth E: Distal 10q monosomy: New evidence for a neurobehavioral condition? Eur J Med Genet. 57:47–53. 2014. View Article : Google Scholar : PubMed/NCBI
15	Piccione M, Antona V, Piro E, Cavani S, Malacarne M, Pierluigi M and Corsello G: 10qter deletion: A new case. Am J Med Genet A 146A. 2435–2438. 2008. View Article : Google Scholar
16	Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, et al: Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med. 367:1321–1331. 2012. View Article : Google Scholar : PubMed/NCBI
17	Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, et al: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 42:203–209. 2010. View Article : Google Scholar : PubMed/NCBI