A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities

Human Genetics

Volumn 112, Issue 3, 2003, Pages 298-302

  Cockwell, Annette E ^a   Jacobs, Patricia A ^a   Beal, Sarah J ^a   Crolla, John A ^a  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

Acrocentric centromeres; FISH; Recurrent miscarriage; Subtelomere

Indexed keywords

ACROCENTRIC CHROMOSOME; ARTICLE; CENTROMERE; CHROMOSOME 10; CHROMOSOME 13; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME 21; CHROMOSOME 22; CHROMOSOME 3; CHROMOSOME ABERRATION; CHROMOSOME ARM; CHROMOSOME PAIRING; CHROMOSOME REARRANGEMENT; CHROMOSOME YP; CONTROLLED STUDY; FEMALE; FISHER EXACT TEST; FLUORESCENCE IN SITU HYBRIDIZATION; GAMETOGENESIS; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE PROBE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEIOSIS; METAPHASE CHROMOSOME; PREVALENCE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SPONTANEOUS ABORTION; ADULT; CHROMOSOME; GENE REARRANGEMENT; GENETICS; RECURRENT ABORTION; TELOMERE; Y CHROMOSOME;

MARTES PENNANTI;

ABORTION, HABITUAL; ADULT; CENTROMERE; CHROMOSOMES; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, Y; FEMALE; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; TELOMERE;

EID: 0037361329     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0887-z     Document Type: Article

References (16)

1. Bailey JA, Yavor AM, Viggiano L, Misceo D, Horvath J, Archidiacono N, Schwartz S, Rocchi M, Eichler EE (2002) Human-specific duplication and mosaic transcripts: The recent paralogous structure of chromosome 22. Am J Hum Genet 70:83-100
2. Benzacken B, Carbillon L, Dupont C, Siffroi JP, Monier-Gavelle F, Bucourt M, Uzan M, Wolf JP (2002) Lack of submicroscopic rearrangements involving telomeres in reproductive failures. Hum Reprod 17:1154-1157
3. Bricker L, Farquharson RG (2000) Recurring miscarriage. Obstetrician Gynaecologist 2:17-22
4. Choo KHA (1997) The Centromere. Oxford University Press, Oxford New York Tokyo
5. Fan Y-S, Zhang Y (2002) Subtelomeric translocations are not a frequent cause of recurrent miscarriages. Am J Med Genet 109:154
6. Jacobs PA, Frackiewicz A, Law P, Hilditch CJ, Morton NE (1975) The effect of structural aberrations of the chromosomes on reproductive fitness in man. Clin Genet 8: 169-178
7. Jacobs PA, Browne C, Gregson N, Joyce C, White H (1992) Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 29:103-108
8. Jalal SM, Harwood AR, Anderson MH, Sekhon GS, Kettering RP, Michels VV (2001) Analysis by subtelomere FISH probes of 191 karyotypically normal patients with nonspecific dysmorphic features or developmental delay, or history of multiple miscarriages. Am J Hum Genet 69(suppl):A879
9. Joyce CA, Dennis NR, Cooper S, Browne CE (2001) Subtelomeric rearrangements: Results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum Genet 109:440-451
10. National Institute of Health and Institute of Molecular Medicine Collaboration (1996) A complete set of human telomeric probes and their clinical application. Nat Genet 14:86-89
11. Smeets DFCM, Merkx GFM, Hopman AHM (1991) Frequent occurrence of translocations of the short arm of chromosome 15 to other D-group chromosomes. Hum Genet 87:45-48
12. Stergianou K, Gould CP, Waters JJ, Hultén M (1993) A DA/DAPI positive 14p heteromorphism defined by fluorescence in situ hybridization using chromosome 14 specific probes D15Z1 (satellite III) and pTRA-25 (alphoid). Hereditas 119:105-110
13. Stirrat GM (1990) Recurrent miscarriage 1: Definition and epidemiology. Lancet 336:673-675
14. Tardy EP, Tóth A (1997) Cross-hybridization of the chromosome 13/21 alpha satellite DNA to chromosome 22 or a rare polymorphism? Prenat Diagn 15:487-488
15. Verlinsky Y, Ginsberg N, Chmura M, Freidine M, White M, Strom C, Kuliev A (1995) Cross hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by FISH. Prenat Diagn 15:831-834
16. Yakut S, Berker-Karaüzüm S, Simsek M, Zorlu G, Trak B, Lüleci G (2002) Telomere specific fluorescence in situ hybridization analysis of couples with five or more miscarriages. Clin Genet 61:26-31