Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

Journal of Laboratory and Clinical Medicine

Volumn 147, Issue 6, 2006, Pages 295-300

  Monfort, Sandra ^a   Orellana, Carmen ^a   Oltra, Silvestre ^a   RosellÓ, Mónica ^a   Guitart, Miriam ^b   Martínez, Francisco ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 14Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME VARIANT; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC KIT; EVALUATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MOLECULAR PROBE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PARENT; RELIABILITY; TELOMERE;

CHROMOSOME DELETION; DNA PROBES; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; REPRODUCIBILITY OF RESULTS; TELOMERE; TRANSLOCATION, GENETIC;

EID: 33744513352     PISSN: 00222143     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lab.2006.01.006     Document Type: Article

References (14)

1. Flint J., Wilkie A.O., Buckle V.J., Winter R.M., Holland A.J., and McDermid H.E. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9 2 (1995) 132-140
2. Holinski-Feder E., Reyniers E., Uhrig S., Golla A., Wauters J., Kroisel P., et al. Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). Am J Hum Genet 66 1 (2000) 16-25
3. Mefford H.C., and Trask B.J. The complex structure and dynamic evolution of human subtelomeres. Nat Rev Genet 3 2 (2002) 91-102
4. Knight S.J., Regan R., Nicod A., Horsley S.W., Kearney L., Homfray T., et al. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354 9191 (1999) 1676-1681
5. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., and Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30 12 (2002) e57
6. Hogervorst F.B., Nederlof P.M., Gille J.J., McElgunn C.J., Grippeling M., Pruntel R., et al. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 63 7 (2003) 1449-1453
7. Gille J.J., Hogervorst F.B., Pals G., Wijnen J.T., van Schooten R.J., Dommering C.J., et al. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer 87 8 (2002) 892-897
8. Montagna M., Dalla Palma M., Menin C., Agata S., De Nicolo A., Chieco-Bianchi L., et al. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12 9 (2003) 1055-1061
9. Janssen B., Hartmann C., Scholz V., Jauch A., and Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene. potential and pitfalls. Neurogenetics 6 1 (2005) 29-35
10. Slater H.R., Bruno D.L., Ren H., Pertile M., Schouten J.P., and Choo K.H. Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet 40 12 (2003) 907-912
11. Gerdes T., Kirchhoff M., Lind A.M., Larsen G.V., Schwartz M., and Lundsteen C. Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA). Eur J Hum Genet 13 2 (2005) 171-175
12. Oostra B.A., Jacky P.B., Brown W.T., and Rousseau F. Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation. J Med Genet 30 5 (1993) 410-413
13. Koolen D.A., Nillesen W.M., Versteeg M.H., Merkx G.F., Knoers N.V., Kets M., et al. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 41 12 (2004) 892-899
14. Rooms L., Reyniers E., van Luijk R., Scheers S., Wauters J., Ceulemans B., et al. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat 23 1 (2004) 17-21