Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations

Author:

Santa María Lorena,Faundes Víctor,Curotto Bianca,Morales Paulina,Morales Karla,Aliaga Solange,Pugin Ángela,Alliende María Angélica

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Reference30 articles.

1. Ahn JW, Ogilvie CM, Welch A, Thomas H, Madula R, Hills A, Donaghue C, Mann K (2007) Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC Med Genet 8:9

2. Boggula VR, Shukla A, Danda S, Hariharan SV, Nampoothiri S, Kumar R, Phadke SR (2014) Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients. Indian J Med Res 139:66–75

3. Christofolini DM, de Paula Ramos MA, Kulikowski LD, da Silva Bellucco FT, Belangero SI, Brunoni D, Melaragno MI (2010) Subtelomeric rearrangements and copy number variations in people with intellectual disabilities. J Intellect Disabil Res 54:938–942

4. Erjavec-Skerget A, Stangler-Herodez S, Zagorac A, Zagradisnik B, Kokalj-Vokac N (2006) Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods. Croat Med J 47:841–850

5. Jalal SM, Harwood AR, Sekhon GS, Pham Lorentz C, Ketterling RP, Babovic-Vuksanovic D, Meyer RG, Ensenauer R, Anderson MH Jr, Michels VV (2003) Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients. Genet Med 5:28–34

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