A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin

Clinical Genetics

Volumn 52, Issue 1, 1997, Pages 56-60

  Gravholt, Claus Hojbjerg ^a   Bugge, Merete ^b   Strømkjær, Helle ^c   Caprani, Monna ^a   Henriques, Ulrik ^a   Petersen, Michael B ^b   Brandt, Carsten A ^c  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c AARHUS UNIVERSITY   (Denmark)

Author keywords

FISH; Molecular genetics; Pseudodicentric chromosome 18; Trisomy 18

Indexed keywords

DNA;

ARTICLE; CHROMOSOME 18; CHROMOSOME PAINTING; DICENTRIC CHROMOSOME; DNA DETERMINATION; EDWARDS SYNDROME; FATHER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INHERITANCE; KARYOTYPE; MALE; MONOSOMY; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; TELOMERE; TRISOMY 18;

EID: 0030790787     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02515.x     Document Type: Article

References (24)

1. Antonarakis SE, Avramopoulos D, Blouin JL, Talbot CC Jr, Schinzel AA. Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nat Genet 1993: 3: 146-150.
2. Boghosian Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, et al. Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. Am J Hum Genet 1994: 55: 476-483.
3. Brahmachari SK, Meera G, Sarkar PS, Balagurumoorthy P, Tripathi J, Raghavan S, et al. Simple repetitive sequences in the genome: structure and functional significance. Electrophoresis 1995: 16: 1705-1714.
4. Brandt CA, Djernes B, Stromkjaer H, Petersen MB, Pedersen S, Hindkjaer J, et al. Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS). J Med Genet 1994: 31: 99-102.
5. Devilee P, Cremer T, Slagboom P, Bakker E, Scholl HP, Hager HD, et al. Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21. Cytogenet Cell Genet 1986: 41: 193-201.
6. Eggermann T, Nothen MM, Eiben B, Hofmann D, Hinkel K, Fimmers R, et al. Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction. Hum Genet 1996: 97: 218-223.
7. Fioretti G, Stabile M, Pagano L, Rinaldi A, Rolando D, Trapassi C, et al. A case of Edward's syndrome with pseudodicentric isochromosome 18: 46,XY,i dic(18) (p11: :p11). Ann Genet 1982: 25: 116-118.
8. Fisher JM, Harvey JF, Morton NE, Jacobs PA. Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction. Am J Hum Genet 1995: 56: 669-675.
9. Gravholt CH, Friedrich U, Caprani M, Jørgensen AL. Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization. Genomics 1992: 14: 924-930.
10. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994: 7: 246-339.
11. Hindkjaer J, Koch J, Terkelsen C, Brandt CA, Kolvraa S, Bolund L. Fast, sensitive multicolor detection of nucleic acids in situ by PRimed IN Situ labeling (PRINS). Cytogenet Cell Genet 1994: 66: 152-154.
12. Hsu TC, Pathak S, Chen TR. The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations. Cytogenet Cell Genet 1975: 15: 41-49.
13. Laurent C, Biemont M-C, Philip T, Dutruge J, Bellon G, Bethenod M, et al. Translocations termino-terminales de novo entre deux chromosomes 18. A propos de deux observations 46,XY,ter rea(18;18)(pter;pter). Ann Genet 1978: 21: 78-82.
14. Madan K, Vlasveld L, Barth PG. Ring-18 and isopseudodicentric-18 in the same child: a hypothesis to account for common origin. Ann Genet 1981: 24: 12-16.
15. Martin RH, Rademaker AW. The effect of age on the frequency of sperm chromosomal abnormalities in normal men. Am J Hum Genet 1987: 41: 484-492.
16. Meguid NA, Habibian R. Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe. Clin Genet 1992: 41: 225-228.
17. Moyzis RK, Buckingham JM, Cram LS, Dani M, Deaven LL, Jones MD, et al. A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. Proc Natl Acad Sci USA 1988: 85: 6622-6626.
18. Petersen MB, Schinzel AA, Binkert F, Tranebjaerg L, Mikkelsen M, Collins FA, et al. Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome. Am J Hum Genet 1991: 48: 65-71.
19. Petersen MB, Frantzen M, Antonarakis SE, Warren AC, Van Broeckhoven C, Chakravarti A, et al. Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome. Am J Hum Genet 1992: 51: 516-525.
20. Straub RE, Speer MC, Luo Y, Rojas K, Overhauser J, Ott J, et al. A microsatellite genetic linkage map of human chromosome 18. Genomics 1993: 15: 48-56.
21. Weber JL, May PE. Dinucleotide repeat polymorphism at the D18S35 locus. Nucleic Acids Res 1990: 18: 6465.
22. Wolff DJ, Miller AP, Van Dyke DL, Schwartz S, Willard HF. Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Am J Hum Genet 1996: 58: 154-160.
23. Wulfsberg EA, Sparkes RS, Klisak IJ, Teng A, Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome. J Med Genet 1984: 21: 151-153.
24. Yunis JJ. High resolution of human chromosomes. Science 1976: 191: 1268-1270.