Subtelomeric rearrangements as neutral genomic polymorphisms

American Journal of Medical Genetics

Volumn 133 A, Issue 1, 2005, Pages 48-52

  Hengstschläger, Markus ^a   Prusa, Andrea ^a   Repa, Christa ^a   Deutinger, Josef ^a   Pollak, Arnold ^a   Bernaschek, Gerhard ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Cryptic rearrangement; Fluorescence in situ hybridization; Polymorphism; Subtelomeric aberration

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22; CHROMOSOME 4; CHROMOSOME 6; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; DNA POLYMORPHISM; DNA TRANSPOSITION; FAMILY STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC HETEROGENEITY; HUMAN; HYPERTELORISM; INFANT; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; PHENOTYPE; PHYSICAL EXAMINATION; PREGNANCY COMPLICATION; PRIORITY JOURNAL; TELOMERE; TRISOMY; X RAY;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; TELOMERE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 12944286496     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30520     Document Type: Article

References (19)

1. Ballif BC, Kashork CD, Shaffer LG. 2000. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 67:1356-1359.
2. Biesecker LG. 2002. The end of the beginning of chromosome ends. Am J Med Genet 107:263-266.
3. Bonaglia MC, Giorda R, Cavallini A, Pramparo T, Rocchi M, Borgatti R, Zuffardi O. 2003. 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 40:e94.
4. de Vries BBA, White SM, Knight SJL, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OWJ, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. 2001. Clinical studies on submicroscopic subtelomeric rearrangements: A checklist. J Med Genet 38:145-150.
5. de Vries BBA, Winter R, Schinzel A, van Ravenswaaij-Arts C. 2003. Telomeres: A diagnosis at the end of the chromosomes. J Med Genet 40:385-398.
6. Fan Y-S, 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.
7. Flint J, Knight S. 2003. The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr Opin Genet Dev 13:310-316.
8. Fritz B, Greber-Platzer S, Frischer T, Streubel B, Groblacher J, Amann G, Ventruba P, Rehder H, Fonatsch C. 2000. Familial cryptic translocation with del 4q34-qter and dup 12pter-p13 in sibs with tracheal stenosis: Clinical, classical, and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen. Am J Med Genet 94:271-280.
9. Gilmore L, Cuskelly M, Jobling A, Smith S. 2001. Deletion 8p: Report of a child with normal intelligence. Dev Med Child Neurol 43:843-846.
10. Horsley SW, Knight SJL, Nixon J, Huson S, Fitchett M, Boone RA, Hilton Jones D, Flint J, Kearney L. 1998. Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements. J Med Genet 35:722-726.
11. 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.
12. Knight LA, Yong MH, Tan M, Ng ISL. 1995. Del(3)(p25.3) without phenotypic effect. Am J Med Genet 32:994-995.
13. Knight SJL, 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.
14. Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai F, Dobyns WB, Ledbetter DH. 2002. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet 39:734-740.
15. 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.
16. 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 Bois 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.
17. Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM, 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.
18. Schotta G, Ebert A, Dorn R, Reuter G. 2003. Position-effect variegation and the genetic dissection of chromatin regulation in Drosophila. Semin Cell Dev Biol 14:67-75.
19. van Karnebeek CDM, Koevoets C, Sluijter S, Bijlsma EK, Smeets DFMC, Redeker EJ, Hennekam RCM, Hoovers JMN. 2002. Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: The Amsterdam experience. J Med Genet 39:546-553.