Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH

American Journal of Medical Genetics

Volumn 127 A, Issue 2, 2004, Pages 111-117

  Kirchhoff, Maria ^a   Pedersen, Søren ^b   Kjeldsen, Eigil ^b   Rose, Hanne ^a   Dunø, Morten ^a   Kølvraa, Steen ^b   Lundsteen, Claes ^a  

^a Rigshospitalet   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Cryptic chromosome aberrations; Developmental delay; Dysmorphism; High resolution CGH; Mental retardation; Subtelomeric FISH

Indexed keywords

ANALYTIC METHOD; ARTICLE; CHILD; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONFIDENCE INTERVAL; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SCREENING; HUMAN; INFANT; INTERMETHOD COMPARISON; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; PROSPECTIVE STUDY; SYNDROME; TELOMERE;

EID: 2442434509     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20678     Document Type: Article

References (43)

1. Anderlid BM, Schoumans J, Annerén G, Sahlén S, Kylerman M, Vujic M, Hagberg B, Blennow E, Nordenskjöld M. 2002. Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet 107:275-284.
2. Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Wollatt E, Haan E. 2002. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 107:285-293.
3. Ballif BC, Kashork CD, Shaffer LG. 2000. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 67:1356-1359.
4. Barber JCK, Cross IE, Douglas F, Nicholson JC, Moore KJ, Browne CE. 1998. Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q. Hum Genet 103:600-607.
5. Bonifacio S, Centrone C, Da Prato L, Scordo MR, Estienne M, Torricelli F. 2001. Use of primed in situ labeling (PRINS) for the detection of telomeric deletions associated with mental retardation. Cytogenet Cell Genet 93:16-18.
6. Borgione E, Giudice ML, Galesi O, Castiglia L, Failla P, Romono C, Ragusa A, Fichera M. 2001. How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation. J Med Genet 38:E1.
7. Browne CE, Dennis NR, Maher E, Long FL, Nicholson JC, Sillibourne J, Barber JCK. 1997. Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet 61:1342-1352.
8. Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, Teshima I. 2002. Detecting rearrangements in children using subtelomeric FISH and SKY. Am J Med Genet 107:267-274.
9. Colleaux L, Rio M, Heuertz S, Mondrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Diare V, Amiel J, Le Merrer M, Picq M, De Blois M-C, Prieur M, Romana S, Cornells F, Vekemans M, Munnich A. 2001. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. Eur J Hum Genet 9:319-327.
10. Costa T, Pashby R, Huggins M, Teshima IE. 1998. Deletion 3q in two patients with blepharophimosis-ptosis-epichanthus inversus syndrome (BPES). J Pediatr Ophthalmol Strabimus 35:271-276.
11. Digilio MC, Marino B, Giannotti A. 1997. Familial deletions of chromosome 22q11. Ain J Med Genet 73:95-96.
12. Fan YS, Zhang Y, Speevak M, Farrell S, Jung JH, Siu VM. 2001. Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes. Genet Med 3:416-421.
13. Fantes JA, Mewborn SK, Lese CM, Brown RL, Dyomin V, Changanti RSK, Christian SL, Ledbetter DH. 2002. Organisation of the pericentromeric regions of chromosome 15: At least four partial gene copies are amplified in patients with a proximal deuplication of 15q. J Med Genet 39:170-177.
14. Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, McDermid HE. 1995. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9:132-139.
15. Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. 2003. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 72:1200-1212.
16. Jalal SM, Harwood AR, Sekhon GS, Lorentx CP, Ketterling RP, Babovic-Vuksanovic D, Meyer RG, Ensenauer R, Anderson MH, Michels VV. 2003. Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients. Genet Med 5:28-34.
17. Joly G, Lapierre JM, Ozilou C, Gosset P, Aurias A, de Blois MC, Prieur M, Raoul O, Colleaux L, Munnich A, Romana SP, Vekemans M, Turleau C. 2001. Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype. Clin Genet 60:212-219.
18. Joyce CA, Dennis NR, Cooper S, Browne CE. 2001. Subtelomeric rearrangements: Results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high resolution G-banding and FISH. Hum Genet 109:440-451.
19. Kirchhoff M, Gerdes T, Maahr J, Rose H, Lundsteen C. 1997. Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis. Cytometry 28:130-134.
20. Kirchhoff M, Gerdes T, Rose H, Maahr J, Ottesen AM, Lundsteen C. 1998. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry 31:163-173.
21. Kirchhoff M, Gerdes T, Maahr J, Rose H, Bentz M, Döhner H, Lundsteen C. 1999. Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals. Genes Chrom Cancer 25:410-413.
22. Kirchhoff M, Rose H, Maahr J, Gerdes T, Bugge M, Tommerup N, Tümer Z, Lespinasse J, Jensen PKA, Wirth J, Lundsteen C. 2000. High resolution comparative genomic hybridisation analysis reveals imbalances in dysmorphic patients with normal or apparently balanced karyotypes. Eur J Hum Genet 8:661-668.
23. Kirchhoff M, Rose H, Lundsteen C. 2001. High resolution comparative genomic hybridization in clinical cytogenetics. J Med Genet 38:740-744.
24. Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354: 1676-1681.
25. Lamb A, Lytle C, Aylsworth A, Powell C, Rao K, Hendrickson M, Carey J, Opitz J, Viskochil D, Leonard C, Brothman C, Stephan M, Bartley J, Hackbarth M, McCarthy D, Proffitt J. 1999. Low proportion of subtelomeric rearrangements in a population of patients with mental retardation and dysmorphic features. Am J Hum Genet 65(Suppl): A169.
26. Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA. 1996. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature. Am J Med Genet 11(65):309-316.
27. Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM. 1991. Absence of predictable phenotypic expression in proximal 15q duplications. Clin Genet 40:194-201.
28. Ness GO, Lybæk H, Houge G. 2002. Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. Am J Med Genet 113:125-136.
29. Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. 2001. 22q13 deletion syndrome. Am J Med Genet 101:91-99.
30. Popp S, Schulze B, Granzow M, Keller M, Holtgreve H, Schoell B, Brough M, Hager H-D, Rariverdian G, Brown J, Kearney L, Jauch A. 2002. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum Genet 111:31-39.
31. Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A. 2001. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet 109: 286-294.
32. Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L. 2002. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J Med Genet 39:266-270.
33. Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. 2001. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet 109:311-318.
34. Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesin C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Peirluigi M, Perfumo C, Di Rocco M, Farvelli F, Bricarelli F, Bonaglia M, Bedischi M, Borgatti R. 2001. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 38:417-420.
35. Sismani C, Armour JAL, Flint J, Girgalli C, Regan R, Patsalis PC. 2001. Screening of subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay. Eur J Hum Genet 9:527-532.
36. Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. 1999. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 36:405-411.
37. van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, Redeker EJ, Hennekam RC, Hoovers JM. 2002. Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: The Amsterdam experience. J Med Genet 39: 546-553.
38. Veltman JA, Vissers L, de Vries BBA, Janssen I, Huys E, van der Vliet W, Straatman H, Smeets D, van Ravenswaaij-Arts CM, de Jong P, Brunner H, Geurts van Kessel A, Schoenmakers EFPM. 2003. High resolution whole genome microdeletion screening by arrayCGH. Eur J Hum Genet 11(suppl):C45.
39. Viot G, Gosset P, Fert S, Prieur M, Turleau C, Raoul O, De Blois MC, Lyonnet S, Munnich A, Vekemans M. 1998. Cryptic subtelomeric rearrangements detected by FISH in mentally retarede and dysmorphic patients. Am J Hum Genet 63(suppl):A10.
40. Vlangos CN, Yim DK, Elsea SH. 2003. Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are deletions created equally? Mol Genet Metab 79:134-141.
41. Vorsanova S, Kolotil A, Sharonin V, Soloviev I, Yurov Y. 1998. FISH analysis of microaberrations at telomeric and subtelomeric regions in chromosomes of children with mental retardation. Am J Hum Genet 63(Suppl):A154.
42. Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flinkt J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, Trembath RC. 1995. Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 56:400-700.
43. Xu J, Chen X. 2003. Advances in molecular cytogenetics for the evaluation of mental retardation. Am J Med Genet 117C:15-24.