High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation

Clinical Biochemistry

Volumn 39, Issue 3, 2006, Pages 196-202

  Lam, Albert C F ^a   Lam, Stephen T S ^a   Lai, Kent K S ^a   Tong, Tony M F ^a   Chau, T C ^a  

^a Clinical Genetic Service   (Hong Kong)

Author keywords

FISH, fluorescence in situ hybridization; MLPA; Moderate to severe mental retardation; MR, mental retardation; Subtelomeric deletions; Subtelomeric FISH

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 10Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME ABERRATION; COST EFFECTIVENESS ANALYSIS; FEASIBILITY STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DELETION; GENETIC SCREENING; HUMAN; MALE; MENTAL DEFICIENCY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL;

CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; FEMALE; GENE DUPLICATION; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; MOLECULAR PROBE TECHNIQUES; PATIENT SELECTION; PEDIGREE; PILOT PROJECTS; TELOMERE;

EID: 33644944837     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2006.01.003     Document Type: Article

References (20)

1. B.M. Anderlid, J. Schoumans, and G. Anneren Subtelomeric rearrangements detected in patients with idiopathic mental retardation Am. J. Hum. Genet. 107 2002 275 284
2. E. Baker, L. Hinton, and D.F. Callen Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies Am. J. Hum. Genet. 107 2002 285 293
3. A. Battaglia Del 1p36 syndrome: a newly emerging clinical entity Brain Dev. 27 2005 358 361
4. A.E. Cockwell, P.A. Jacobs, and S.J. Beal A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities Hum. Genet. 112 2003 298 302
5. B.B.A. de Vries, R. Winter, A. Schinzel, and C. van Ravenswaaij-Arts Telomeres: a diagnosis at the end of the chromosomes J. Med. Genet. 40 2003 385 398
6. M.D. Kilby, K.J. Brackley, J.J. Walters, J. Morton, E. Roberts, and E.V. Davison First-trimester prenatal diagnosis of a familial subtelomeric translocation Ultrasound Obstet. Gymecol. 17 2001 531 533
7. S.J. Knight, C.M. Lese, and K.S. Precht An optimized set of human telomere clones for studying telomere integrity and architecture Am. J. Hum. Genet. 67 2000 320 332
8. D.A. Koolen, W.M. Nillesen, and M.H. Versteeg Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) J. Med. Genet. 41 2004 892 899
9. C.L. Martin, D.J. Waggoner, and A. Wong "Molecular rulers" for calibrating phenotypic effects of telomere imbalance J. Med.Genet. 39 2002 734 740
10. M.J. Pettenati, C. Von Kap-Herr, and B. Jackle Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes Prenat. Diagn. 22 2002 193 197
11. R. Redon, M. Rio, and S.G. Gregory Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? J. Med. Genet. 42 2005 166 171
12. M. Rio, F. Molinari, and S. Heuertz Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation J. Med. Genet. 39 2002 266 270
13. L. Rooms, E. Reyniers, and R. Van Luijk Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) Hum. Mutat. 23 2004 17 21
14. L. Rooms, E. Reyniers, R. Van Luijk, S. Scheers, J. Wauters, and R. Frank Kooy Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation Ann. Genet. 47 2004 53 59
15. E. Rossi, F. Piccini, and M. Zollino Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations J. Med. Genet. 38 2001 417 420
16. C. Sismani, A.L. Armour, J. Flint, C. Girgalli, R. Regan, and P.C. Patsalis Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay Eur. J. Hum. Genet. 9 2001 527 532
17. A. Slavotinek, M. Rosenberg, and S. Knight Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres J. Med. Genet. 36 1999 405 411
18. Y. Van Bever, L. Rooms, and A. Laridon Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype Am. J. Med. Genet. 135A 2005 91 95
19. J.A. Veltman, E.F.P.M. Schoenmakers, and B.H. Eussen High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization Am. J. Hum. Genet. 70 2002 1269 1276
20. S. Yakut, S. Berker-Karauzum, M. Simsek, G. Zorlu, B. Trak, and G. Luleci Telomere-specific fluorescence in situ hybridization analysis of couples with five or more recurrent miscarriages Clin. Genet. 61 2002 26 31