Not para-, not peri-, but centric inversion of chromosome 12

Journal of Medical Genetics

Volumn 35, Issue 8, 1998, Pages 682-684

  Silahtaroglu, Asli N ^a,b   Hacihanefioglu, Seniha ^a   Güven, Gülgün S ^a   Cenani, Asim ^a   Wirth, Jutta ^c   Tommerup, Niels ^b   Tümer, Zeynep ^b  

^a ISTANBUL UNIVERSITY   (Turkey)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Centric inversion; Centromere fission; inv(12); Klinefelter syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 12; CHROMOSOME ANALYSIS; CHROMOSOME INVERSION; DNA PROBE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; MALE; MALE INFERTILITY; PRIORITY JOURNAL; TELOMERE;

EID: 0031825194     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.8.682     Document Type: Article

References (20)

1. Willard HF. Chromosome-specific organisation of human alpha satellite DNA. Am J Hum Genet 1985;37:524-32.
2. Silahtaroglu AN, Hacihanefioglu S, Yilmaz S, Tarkan Y, Cenani A, Tümer Z. A supernumarary marker chromosome X identified by in situ hybridiation. Clin Genet 1995; 47:270-3.
3. Gordon LP, Dalton DJ, Martens RP, Tharapel TA, Wilroy SR. Eludication of the centromere involvement in an inversion (13) by fluorescent in situ hybridisation. J Med Genet 1993;30:414-16.
4. Tharapel AT, Qumsiyeh MB, Martens PR, et al. Identification of the origin of centromeres in whole arm translocations using fluorescent in situ hybridization with alpha satellite DNA probes. Am J Med Genet 1991;40:117-20.
5. Telenius H, Pelmear AH, Tunnacliffe A, et al. Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chrom Cancer 1992; 4:257-63.
6. Kievitis T, Dauwerse JG, Wiegant J, et al. Rapid subchromosomal localization of cosmids by non-radioactive in situ hybridization. Cytogenet Cell Genet 1990;53:134-6.
7. Haagerup A, Hertz MJ. Pericentric inversion of chromosome 12: a three family study. Hum Genet 1992;89:292-4.
8. Speleman F, Van RN, De Vos E, Hilliker C, Suijkerbuijk RFS, Leroy JG. Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12. Clin Genet 1993;44:156-63.
9. Pettenati MJ, Rao PN, Phelan MC, et al. Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases. Am J Med Genet 1995; 55:171-87.
10. Kleckowska A, Fryns JP, Van den Berghe H. Pericentric inversions in man: personal experience and review of the literature. Hum Genet 1987;75:333-8.
11. Madan K. Paracentric inversions: a review. Hum Genet 1995;96:503-15.
12. Singh RP. Klinefelter's syndrome with a 47,XXY,inv(12)(ql5q24) karyotype. Clin Genet 1981;19: 188-90.
13. Willard H. Molecular cytogenetics of centromeres of human chromosomes. Proceedings of the 10th International Chromosome Conference, June 1989, Uppsala, Sweden: 47-60.
14. Wevrick R, Earnshaw WC, Howard-Peebles P, Willard HF. Partial deletion of alpha satellite DNA associated with reduced amounts of the centromere protein CENP-B in a mitotically stable human chromosome rearrangement. Mol Cell Biol 1990;12:6374-80.
15. Tümer Z, Berg A, Mikkelsen M. Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric alpha-satellite sequences. Hum Genet 1995;95: 299-302.
16. Brown KE, Barnett MA, Burgtorf C, Shaw P, Buckle VJ, Brown WR. Dissecting the centromere of the human Y chromosome with cloned telomeric DNA. Hum Mol Genet 1994;3:1227-37.
17. Canrú ES, Khan TA, Pai GS. Fluorescence in situ hybridization (FISH) of a whole-arm translocation involving chromosomes 18 and 20 with α-satellite DNA probes: detection of a centromeric DNA break? Am J Med Genet 1992;44: 340-4.
18. Rivera H, Canru JM. Centric fission consequences in man. Ann Genet 1986;29:223-5.
19. Therman E, Trunca C, Kuhn EM, Sarto GE. Dicentric chromosomes and the inactivation of the centromere. Hum Genet 1986;72:191-5.
20. Sullivan BA, Schwartz S. Identification of centromeric antigens in dicentric robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres. Hum Mol Genet 1995;4:2189-97.