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Cytogenetic Resources 
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The sub-telomeric collection
Sub-Telomeric Imbalance Chart
Sub-Telomeric Imbalance Table
References
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Home > Resources > The Transmitted Sub-Telomeric Imbalance Collection
The Transmitted Sub-Telomeric Imbalance Collection
Sub-Telomeric Imbalance ChartSub-Telomeric Imbalance Table ReferencesSubmission Form

References

Adeyinka A, Adams SA, Lorentz CP, Van Dyke DL, Jalal SM. Subtelomere deletions and translocations are frequently familial. Am J Med Genet A. 2005;135:28-35.

Baker E, Hinton L, Callen DF, Haan EA, Dobbie A, Sutherland GR. A familial cryptic subtelomeric deletion 12p with variable phenotypic effect. Clin Genet. 2002;61:198-201.

Balikova I, Menten B, de Ravel T, Le Caignec C, Thienpont B, Urbina M, Doco-Fenzy M, de Rademaeker M, Mortier G, Kooy F, van Den Ende J, Devriendt K, Fryns JP, Speleman F, Vermeesch JR. Subtelomeric imbalances in phenotypically normal individuals. Hum Mutat. 2007;28:958-967.

Bonaglia MC, Marelli S, Gottardi G, Zucca C, Pramparo T, Giorda R, Grasso R, Borgatti R, Zuffardi O. Subtelomeric trisomy 21q: a new benign chromosomal variant. Eur J Med Genet. 2007;50:54-59.

Bonaglia MC, Giorda R, Cavallini A, Pramparo T, Rocchi M, Borgatti R, Zuffardi O. Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism? J Med Genet. 2003;40:e94.

Gignac J, Danis K, Tihy F, Lemyre E. Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations. Am J Med Genet A. 2006;140:2768-2775.

Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N. Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet. 2004;41:130-136.

Hengstschlager M, Prusa A, Repa C, Deutinger J, Pollak A, Bernaschek G. Subtelomeric rearrangements as neutral genomic polymorphisms. Am J Med Genet A. 2005;133:48-52.

Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DH, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR. Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. Eur J Hum Genet. 2001;9:217-225.

Joyce CA, Dennis NR, Cooper S, Browne CE. 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. 2001;109:440-451.

Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet. 2004;41:892-899.

Le Caignec C, De Mas P, Vincent MC, Boceno M, Bourrouillou G, Rival JM, David A. Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.
Am J Med Genet A. 2005;132:175-180.

Martin CL, Nawaz Z, Baldwin EL, Wallace EJ, Justice AN, Ledbetter DH. The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization. Genet Med. 2007 Sep;9(9):566-73. Review.

Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet. 2002;39:734-740.

Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet. 2006;43:478-489.

Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet. 2001;109:286-294.

Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, van Goethem G, Laridon A, Ceulemans B, Courtens W, Kooy RF. Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. Clin Genet. 2006;69:58-64.

Shaffer LG, Kashork CD, Bacino CA, Benke PJ. Caution: telomere crossing. Am J Med Genet. 1999;87:278-280.

van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. Clinical and Molecular Characteristics of 1qter Syndrome: Delineating a Critical Region for corpus callosum agenesis/hypogenesis. J Med Genet. 2008 Jan 30. [Epub ahead of print].

Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, Matthijs G, de Ravel T, Devriendt K, Fryns JP, Vermeesch JR. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet. 2004;41:691-698.

van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, Redeker EJ, Hennekam RC, Hoovers JM. Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience. J Med Genet. 2002;39:546-553.

 


Last Updated: 7 August, 2008 by G. Watkins.
 
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