Subtelomere deletions and translocations are frequently familial

American Journal of Medical Genetics

Volumn 135 A, Issue 1, 2005, Pages 28-35

  Adeyinka, Adewale ^a   Adams, S Annie ^a   Lorentz, Cindy P ^a   Van Dyke, Daniel L ^a   Jalal, Syed M ^a  

^a MAYO CLINIC   (United States)

Author keywords

Chromosomes; Familial; FISH; Mental retardation; Subtelomere region

Indexed keywords

ADOLESCENT; ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CONGENITAL DISORDER; DATA BASE; DEVELOPMENTAL DISORDER; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC DISORDER; HUMAN; IDIOPATHIC DISEASE; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NEWBORN; PARENT; PATIENT SELECTION; PRIORITY JOURNAL; RELATIVE; REVIEW; SIBLING; TELOMERE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; TELOMERE; TRANSLOCATION, GENETIC;

EID: 18244366919     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30675     Document Type: Review

References (18)

1. Astbury C, Christ LA, Aughton DJ, Cassidy SB, Kumar A, Eichler EE, Schwartz S. 2004. Detection of deletions in de novo "balanced" chromosome rearrangements: Further evidence for their role in phenotypic abnormalities. Genet Med 6:81-89.
2. Baker E, Hinton L, Callen DF, Haan EA, Dobbie A, Sutherland GR. 2002a. A familial cryptic subtelomeric deletion 12p with variable phenotypic effect. Clin Genet 61:198-201.
3. Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Woollatt E, Haan E. 2002b. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 107:285-293.
4. Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, Romana S, Cornelis 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.
5. De Vries BB, 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. Flint J, Knight SJL. 2003. The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr Opin Genet Dev 13:310-316.
7. Jalal SM, Harwood AR, Sekhon GS, Pham Lorentz C, Ketterling RP, Babovic-Vuksanovic D, Meyer RG, Ensenauer R, Anderson MH Jr, Michels W. 2003. Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients. Genet Med 5:28-34.
8. Joly G, Lapierre JM, Ozilou C, Gosset P, Aurias A, de Blois MC, Prieur M, Raoul O, Colleaux L, Munnich A, Romana S, Vekemans M, Turleau C. 2001. Comparative genomic hybridization in mentally retarded patients with dysmorphic features and a normal karyotype. Clin Genet 60:212-219.
9. 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.
10. Knight SJL, Flint J. 2000. Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis. J Med Genet 37:401-409.
11. Knight LA, Yong MH, Tan M, Ng ISL. 1995. del(3)(p25.3) without phenotypic effect. Am J Med Genet 32:994-995.
12. 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.
13. 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.
14. 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.
15. Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meek J, Aughton D, Bird LM, Bodurtha JS, Cassidy B, 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
16. Saccone S, De Sario A, Della Valle G, Bernardi G. 1992. The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proc Natl Acad Sci USA 89:4913-4917.
17. Tsukahara M, Imaizumi K, Fujita K, Tateishi H, Uchida M. 2001. Familial del(18p) syndrome. Am J Med Genet 99:67-69.
18. Velagaleti GV, Harris S, Carpenter NJ, Coldwell J, Say B. 1996. Familial deletion of chromosome 18 (p11.2). Ann Genet 39:201-204.