Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization

Clinical Genetics

Volumn 49, Issue 1, 1996, Pages 49-53

  Van Langen, Irene M ^a   Otter, Mariëlle A ^a   Aronson, Daniël C ^b   Overweg Plandsoen, W C G ^b   Hennekam, Raoul C M ^a,b   Leschot, Nico J ^a   Hoovers, Jan M N ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Fluorescence in situ hybridization; Ring chromosome; Trisomy 20p

Indexed keywords

ARTICLE; CASE REPORT; CELL NUCLEUS; CENTROMERE; CHROMOSOME 20; CHROMOSOME 20P; CHROMOSOME 20Q; COSMID; DNA PROBE; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; INFANT; MALE; METAPHASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RING CHROMOSOME; SUPERNUMERARY CHROMOSOME; TELOMERE; TRISOMY;

EID: 0029962240     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb04325.x     Document Type: Article

References (12)

1. Baldini A, Archidiacono N, Carbone R, Bolino A, Shridhar V, Miller OJ, Miller DA, Ward DC, Rocchi M. Isolation of a human chromosome 20-specific alpha satellite DNA clone. Cytogenet Cell Genet 1992: 59: 12-16.
2. Blennow E, Annerén G. The-Hung Bui, Berggren E, Asadi E, Nordenskjöld M. Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). Am J Hum Genet 1993: 53: 433-442.
3. Callen DF, Eyre HJ, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA. Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. Am J Hum Genet 1991: 48: 769-782.
4. Daniel A, Malafiej P, Preece K, Chia N, Nelson J, Smith M. Identification of marker chromosomes in thirteen patients using FISH probing. Am J Med Genet 1994: 53: 8-18.
5. Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del Porto G. 20p Duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome. Clin Genet 1992: 41: 285-289.
6. Harris C, Wilderson C, Clark K, Lazarski K, Meisner L. Potential use of buccal smears for rapid diagnosis of autosomal trisomy or chromosomal sex in newborn infants using DNA probes. Am J Med Genet 1994: 53: 355-358.
7. Herens C, Verloes A, Laloux F, Van Maldergem L. Trisomy 20q. A new case and further phenotypic delineation. Clin Genet 1990: 37: 363-366.
8. Hoo JJ, Drummond M, Parslow MI, Chambers D. The ring nature of a tiny supernumerary chromosome fragment. Am J Med Genet 1980: 5: 331-337.
9. Hoovers JMN, Mannens M, John R, Bliek J, van Heyningen V, Porteous DJ, Leschot NJ, Westerveld A, Little PFR. High-resolution localization of 69 potential human zinc finger protein genes: a number are clustered. Genomics 1992: 12: 254-263.
10. LeChien KA, McPherson E, Estop AM. Duplication 20p identified via fluorescent in situ hybridization. Am J Med Genet 1994: 50: 187-189.
11. Michalski K, Rauer M, Williamson N, Perszyk A, Hoo JJ. Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes. Am J Med Genet 1993: 46: 88-94.
12. Pezzolo A, Gimelli G, Cohen A, Lavaggetto A, Romano C, Fogu G, Zuffardi O. Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum Genet 1993: 92: 23-27.