Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

Journal of Medical Genetics

Volumn 36, Issue 5, 1999, Pages 405-411

  Slavotinek, A ^a   Rosenberg, M ^b   Knight, S ^c   Gaunt, L ^a   Fergusson, W ^a   Killoran, C ^b   Clayton Smith, J ^a   Kingston, H ^a   Campbell, R H A ^d   Flint, J ^c   Donnai, D ^a   Biesecker, L ^b  

^a ST MARY S HOSPITAL   (United Kingdom)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d TRAFFORD GENERAL HOSPITAL   (United Kingdom)

Author keywords

1p monosomy; Chromosome telomeres; Idiopathic mental retardation; Submicroscopic chromosome rearrangement

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 18Q; CHROMOSOME 1P; CHROMOSOME ARM; CHROMOSOME REARRANGEMENT; FEMALE; GENETIC MARKER; GENETIC SCREENING; HUMAN; IDIOPATHIC DISEASE; MENTAL DEFICIENCY; MONOSOMY; PRIORITY JOURNAL; STATISTICS; TELOMERE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 18; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MENTAL RETARDATION; MICROSATELLITE REPEATS; MONOSOMY; TELOMERE;

EID: 0032901062     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. Hagberg B, Hagberg G, Lewwerth A, Lindberg U. Mild mental retardation in Swedish school children. Acta Paediatr Scand 1981;70:445-52.
2. Lamont MA, Dennis NR. Aetiology of mild mental retardation. Arch Dis Child 1988;63:1032-8.
3. Bundey S, Thake A, Todd J. The recurrence risks for mild idiopathic mental retardation. J Med Genet 1989;26:260-6.
4. Ohdo S, Sonoda T, Ohba K, Hayakawa K. Etiologic and pathogenetic study of mental retardation with multiple congenital anomalies. Acta Paediatr Jpn 1992;34:144-50.
5. Flint J, Wilkie AOM. The genetics of mental retardation. Br Med Bull 1996;52:435-64.
6. Bradley Schaefer G, Bodensteiner JB. Evaluation of the child with idiopathic mental retardation. Pediatr Clin North Am 1992;39:929-43.
7. Raynham H, Gibbons R, Flint J, Higgs D. The gentic basis for mental retardation. Q J Med 1996;89:169-75.
8. Bonthron DT, Smith SJL, Fantes J, Gosden CM. De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier Am J Hum Genet 1993;53:629-37.
9. Lamb J, Wilkie AOM, Harris PC, et al. Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet 1989;ii:819-24.
10. Wilkie AOM, Buckle VJ, Harris PC, et al. Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet 1990;46:1112-26.
11. Altherr MR, Bengtsson U, Elder FFB, et al. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet 1991;49:1235-42.
12. Goodship J, Curtis A, Cross I, et al. A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and in situ hybridisation. J Med Genet 1992;29:451-4.
13. Reid E, Morrison N, Barron L, et al. Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study. J Med Genet 1996;33:197-202.
14. Overhauser J, Bengtsson U, McMahon J, et al. Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5. Am J Hum Genet 1989;45:296-303.
15. Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet 1991;49:707-14.
16. Borgaonkar DS. Chromosomal variation in man. 7th ed. New York: Alan R Liss, 1994.
17. Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995;9:132-40.
18. National Institute of Health and Institute of Molecular Medicine Collaboration. A complete set of telomeric probes and their clinical application. Nat Genet 1996;14:86-9.
19. Giraudeau F, Aubert D, Young I, et al. Molecular-cytogenetic detection of a deletion of 1p36.3. J Med Genet 1997;34:314-17.
20. Biesecker LG, Rosenberg M, Dzaidzio L, et al. Detection of a subtle rearrangement of chromosome 22 using molecular technique Am J Med Genet 1996;58:389-94.
21. Wong ACC, Ning Y, Flint J, et al. Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am J Hum Genet 1997;60:113-20.
22. Rosenberg M, Hui L, Ma J, et al. Characterization of short tandem repeats from thirty-one human telomeres. Genome Res 1997;7:917-23.
23. Knight SJL, Horsley SW, Regan R, et al. Development and clinical application of an innovative fiuoresence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 1997;5:1-8.
24. Gyapay G, Morissette J, Vignal A, et al. The 1993-4 Généthon human genetic linkage map. Nat Genet 1994;7:246-9.
25. Vocero-Akbani A, Helms C, Wang JC, et al. Mapping human telomere regions with YAC and P1 clones: chromosome-specific markers for 27 telomeres including 149 STSs and 24 polymorphisms for 14 proterminal regions. Genomics 1996;36:492-506.
26. Donis-Keller H, Green P, Helms C, et al. A genetic linkage map of the human genome. Cell 1987;51:319-37.
27. Browne DL, Smith EA, Dietz-Band J, Reithman HC, Phromchotikul T, Litt M. Dinucleotide repeat polymorphism at the human 11p telomere (D11S2071). Genomics 1995;25:600-1.
28. Freije D, Helms C, Watson MS, Donis-Keller H. Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science 1992;258:1784-7.
29. Collins A, Frezal J, Teague J, Morton NE. A metric map of humans: 23,500 loci in 850 bands. Proc Natl Acad Sci USA 1996;93:14771-5.
30. Buroker N, Bestwick R, Haight G, Magenis RE, Litt M. A hypervariable repeated sequence on human chromosome 1p36. Hum Genet 1987;77:175-81.
31. Wilkie AOM. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms. Am J Hum Genet 1993;53:688-701.
32. Schinzel A. Notes on clinical findings in autosomal chromosome aberrations. In: Schinzel A, ed. Catalogue of unbalanced chromosome aberrations in man. Berlin: Walter de Gruyter, 1984:35-50.
33. De Grouchy J, Royer P, Salmon C, Lamy M. Délétion partielle des bras longs du chromosome 18. Pathol Biol 1964;12:579-82.
34. Wertelecki W, Gerald PS. Clinical and chromosomal studies of the 18q- syndrome. J Pediatr 1971;78;44-52.
35. Wilson MG, Towner JW, Forsman I, Siris E. Syndromes associated with deletion of the long arm of chromosome 18 [del(18q)]. Am J Med Genet 1979;3;155-74.
36. Strathdee G, Harrison W, Riethman HC, Goodart SA, Overhauser J. Interstitial deletions are not the main mechanism leading to 18q deletions. Am J Hum Genet 1994;54:1085-91.
37. Strathdee G, Zackai EH, Shapiro R, Kamholz, Overhauser J. Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet 1995;59:476-83.
38. Kline AD, White ME, Wapner R, et al. Molecular analysis of the 18q- syndrome - and correlation with phenotype. Am J Hum Genet 1993;52:8985-96.
39. Strathdee G, Sutherland R, Jonsson JJ, et al. Molecular characterization of patients with 18q23 deletions. Am J Hum Genet 1997;60:860-8.
40. Blennow E, Bui TH, Wallin A, Kogner P. Monosomy 1p36.31-33→pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis. Am J Med Genet 1996;65:60-7.
41. Keppler-Noreuil KM, Carroll AJ, Finley WH, Rutledge SL. Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes. J Med Genet 1995;32:619-22.
42. Reish O, Berry SA, Hirsch B. Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome. Am J Med Genet 1995;59:467-75.
43. Shapira SK, McCaskill C, Northrup H, et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997;61:642-50.
44. Wargowski D, Sekhon G, Laxova R, Thompson K, Kent C. Terminal deletions of band 1p36: emergence of two overlapping phenotypes. Am J Hum Genet Suppl 1991;49;278.
45. Wexler P, Gilfillan T, McGavran L, Sujansky E. Deletions (1)(p36.3) and the potential role of high resolution chromosome analysis. Am J Hum Genet Suppl 1991;49:278.
46. Biegel JA, White PS, Marshall HN, et al. Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet 1993;52:176-82.
47. Sandlin CJ, Dodd BS, Dumars KW, Bartley IA, Bernstein R, Lamb A. Phenotypes associated with terminal deletion of the short arm of chromosome 1. Am J Hum Genet Suppl 1995;57:A130.
48. Wenger SL, Steele MW, Becker DJ. Clinical consequences of deletion 1p35. J Med Genet 1988;25:263.
49. Young RS, Weaver DD, Kukolich MK, et al. Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases. Am J Med Genet 1984;17:437-50.
50. Hatziioannou AG, Krauss CM, Lewis MB, Halazonetis TD. Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36. Am J Med Genet 1991;40;201-5.
51. Frints SGM, Moerman P, Fryns JP. Variable expression of phenotype in offspring with partial monosomy 7q and partial trisomy 8p in a family with a rep (7;8)(q34;p12) translocation. Genet Couns 1996;7:313-19.
52. Shaffer LG, Spikes AS, Macha M, Dunn R. Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. J Reprod Med 1996;41:367-71.
53. Lambert JC, Mariani R, Donzeau M, Ferrari M, Boutte P, Ayraud N. La monosomie 7qter. A propos d'une observation. Arch Fr Pediatr 1981;38:177-80.