A brief review of cryptic duplications of 21q as an emerging cause of Down syndrome: Practical considerations for accurate detection

Clinical Genetics

Volumn 55, Issue 3, 1999, Pages 207-211

  Garcia Heras, Jaime ^a   Nagesh Rao, P ^b  

^a TEXAS DEPARTMENT OF STATE HEALTH SERVICES   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Down syndrome; Duplications 21q; FISH

Indexed keywords

DNA;

ADULT; ARTICLE; CHILD; CHROMOSOME 21Q; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CYTOGENETICS; DNA DETERMINATION; DOWN SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE;

EID: 0345040719     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.550310.x     Document Type: Article

References (21)

1. Epstein CJ. Down syndrome (trisomy 21). In: The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill, 1995: 749-794.
2. Miyazaki K, Yamanaka T, Ogasawara N. A boy with Down's syndrome having a recombinant chromosome 21 but no SOD-1 excess. Clin Genet 1987: 32: 383-387.
3. Barnicoat AJ, Bonneau JL, Boyd E, Docherty Z, Fennell SJ, Huret JL, King M, Maltby EL, McManus S, Pilz DT, Shafei-Benaissa E, Super M, Tolmie J. Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: clinical assessment. Clin Genet 1996: 49: 20-27.
4. Delabar JM, Theophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, Noel B, Sinet PM. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1993: 1: 114-124.
5. Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, Graham Jr JM, Hudgins L, McGillivray B, Miyazaki K, Ogasawara N, Park JP, Pagon R, Pueschel S, Sack G, Say B, Schuffenhauer S, Soukup S, Yamanaka T. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Nat Acad Sci USA 1994: 91: 4997-5001.
6. McCormick MK, Schindel A, Petersen MB, Stetten G, Driscoll DJ, Cantu ES, Tranebjaerg L, Mikkelsen M, Watkins PC, Antonarakis S. Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics 1989: 5: 325-331.
7. Scott JA, Wenger SL, Steele MW, Chakravarti A. Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation. Am J Med Genet 1995: 56: 67-71.
8. Knight LA, Yong MH, Tan M, Ng ISL. Subtle translocation (18;21) confirmed by FISH in a patient with Down syndrome. Clin Genet 1996: 50: 430-432.
9. Nadal M, Mila M, Pritchard M, Mur A, Pujals J, Blouin JL, Antonarakis SE, Ballesta F, Estivill X. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome. Hum Genet 1996: 98: 460-466.
10. Nadal M, Moreno S, Pritchard M, Preciado MA, Estivill X, Ramos- Arroyo MA. Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21)(q26;q22.1) by FISH. J Med Genet 1997: 34: 50-54.
11. Bartsch P, Hinkel GK, Petersen MB, Konig U, Bugge M, Mikkelsen M, Avramopoulos D, Morris M, Antonarakis SE. A large family with subtelomeric translocation I(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region. Hum Genet 1997: 100: 669-675.
12. Delabar JM, Sinet PM, Chadefaux B, Nicole A, Gegonne A, Stehelin D, Fridlansky F, Creau-Goldberg N, Turleau C, de Grouchy J. Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome). Hum Genet 1987: 76: 225-229.
13. Huret JL, Delabar JM, Marlhens F, Aurias A, Nicole A, Berthier M, Tanzer J, Sinet PM. Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality. Hum Genet 1987: 75: 251-257.
14. Hook EB. Exclusion of chromosomal mosaicism: tables of 90%, 95%, and 99% confidence limits and comments on use. Am J Hum Genet 1977: 29: 94-97.
15. Turpin R, Lejeune J. Etude dermatoglyphique des paumes des mongoliens et de leurs parents et germains. Semin Hop Paris 1953: 29: 3955-3967.
16. Preus M. A diagnostic index for Down syndrome. Clin Genet 1977: 12: 47-55.
17. Rex AP, Preus M. A diagnostic index for Down syndrome. J Pediatr 1982: 100: 903-906.
18. Jackson JF, North III ER, Thomas JG. Clinical diagnosis or Down's syndrome. Clin Genet 1976: 9: 483-487.
19. Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC, Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowsky V, Fayet E, Yaspo ML, Korn B, Blouin JL, Lehrach H, Poutska A, Antonarakis SE, Sinet PM, Creau N, Delabar JM. Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. Genomics 1998: 48: 12-23.
20. Vidal-Taboada JM, Bergonon S, Sanchez M, Lopez-Acedo C, Groet J, Nizetic D, Egeo A, Scartezzini P, Katsanis N, Fisher EM, Delabar JM, Oliva R. High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2. Biochem Biophys Res Commun 1998: 243: 572-578.
21. Ahlbom BE, Goetz P, Korenberg JR, Petterson U, Seemanova E, Wadelius C, Zech L, Anneren G. Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype. Am J Med Genet 1996: 63: 566-572.