Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature

American Journal of Medical Genetics

Volumn 121 A, Issue 2, 2003, Pages 163-167

  Tönnies, Holger ^a   Neumann, Luitgard M ^a   Grüneberg, Berthild ^b   Neitzel, Heidemarie ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b Dept of Devmtl Med Child Neurol   (Germany)

Author keywords

Buccal smear cells; In situ hybridization FISH; Microdissection; Ring chromosome; Supernumerary marker chromosome

Indexed keywords

ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD DEVELOPMENT; CHROMOSOME 1; CHROMOSOME MARKER; CHROMOSOME MICRODISSECTION; CHROMOSOME MOSAICISM; CORRELATION ANALYSIS; CYTOGENETICS; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; IN SITU HYBRIDIZATION; INTERPHASE; KARYOTYPE; MALE; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SOCIAL INTERACTION; SUPERNUMERARY CHROMOSOME;

EID: 0042193659     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20225     Document Type: Article

References (20)

1. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E. 2001. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet 99:223-233.
2. Blennow E, Bui TH, Kristoffersson U, Vujic M, Anneren G, Holmberg E, Nordenskjold M. 1994. Swedish survey on extra structurally abnormal chromosomes in 39105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization. Prenat Diagn 14:1019-1028.
3. Buckton KE, Spowart G, Newton MS, Evans HJ. 1985. Forty four probands with an additional "marker" chromosome. Hum Genet 69:353-370.
4. Callen DF, Ringenbergs ML, Fowler JC, Freemantle CJ, Haan EA. 1990. Small marker chromosomes in man: Origin from pericentric heterochromatin of chromosomes 1, 9, and 16. J Med Genet 27:155-159.
5. Callen DF, Eyre HJ, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA. 1991. Chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics. Am J Hum Genet 48:769-782.
6. Callen DF, Eyre H, Fang YY, Guan XY, Veleba A, Martin NJ, McGill J, Haan EA. 1999. Origins of accessory small ring marker chromosomes derived from chromosome 1. J Med Genet 36:847-853.
7. Chen H, Tuck-Muller CM, Batista DA, Wertelecki W. 1995. Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization. Am J Med Genet 56:219-233.
8. Crolla JA, Long F, Rivera H, Dennis NR. 1998. FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases. Am J Med Genet 75:355-366.
9. Dawson AJ, Konkin D, Riordan D, Chudley AE. 2001. Mosaic trisomy of a small r(1) with an abnormal phenotype. Am J Med Genet 103:32-35.
10. Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, Larizza L. 2001. FISH characterization of a supernumerary r(1)(::cen→q22:: q22→sq21::) chromosome associated with multiple anomalies and bilateral cataracts. Am J Med Genet 104:157-164.
11. Friedrich U, Houman M, Hansen BH, Kaltoft K. 2001. Microdissection and reverse painting in a melanoma cell line: A detailed description of structurally abnormal chromosomes. Cancer Genet Cytogenet 125:5-9.
12. Gardner RJM, Sutherland GR. 1996. Chromosome abnormalities and genetic counseling, 2nd edn. New York, Oxford: Oxford University Press.
13. Giardino D, Bettio D, Gottardi G, Rizzi N, Pierluigi M, Perfumo C, Cali A, Dagna Bricarelli F, Larizza L. 1999. FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes. Am J Med Genet 84:377-380.
14. Lanphear N, Lamb A, Oppenheimer S, Soukup S. 1995. Supernumerary chromosome marker (1) in a developmentally delayed child. Am J Med Genet 57:400-402.
15. Levy B, Dunn TM, Kaffe S, Kardon N, Hirschhorn K. 1998. Clinical applications of comparative genomic hybridization. Genet Med 1:4-12.
16. Michalski K, Rauer M, Williamson N, Perszyk A, Hoo JJ. 1993. Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes. Am J Med Genet 46:88-94.
17. Plattner R, Heerema NA, Howard-Peebles PN, Miles JH, Soukup S, Palmer CG. 1993. Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization. Hum Genet 91:589-598.
18. Rothlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A. 2001. Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child. J Med Genet 38:885-888.
19. Telenius H, Carter NP, Nordenskjold M, Ponder BA, Yunnacliffe A. 1992. Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer. Genomics 13:718-725.
20. Xu J, Fong CT, Cedrone E, Sullivan J, Wang N. 1998. Prenatal identification of de novo marker chromosomes using micro-FISH approach. Clin Genet 53:490-496.