Genetic counseling in translocations

Urologic Clinics of North America

Volumn 29, Issue 4, 2002, Pages 793-807

  Simpson, Joe Leigh ^a   Bischoff, Farideh ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME ABERRATION; EARLY DIAGNOSIS; GENE TRANSLOCATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; MALE INFERTILITY; PREVALENCE; PRIORITY JOURNAL; REVIEW; TESTIS DISEASE;

FEMALE; GENETIC COUNSELING; HUMANS; INFERTILITY, MALE; MALE; TRANSLOCATION, GENETIC;

EID: 0036865847     PISSN: 00940143     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0094-0143(02)00088-5     Document Type: Review

References (36)

1. Hook EB, Hamerton JL. The frequency of chromosome abnormalities detected in consecutive newborn studies: Differences between studies-results by sex and by severity of phenotype involvement. In: Hook EB, Porter IH, editors. Population Cytogenetic Studies in Humans. New York: Academic Press; 1977. p. 63.
2. Ferguson-Smith MA, Yates JR. Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative European study on 52 965 amniocenteses. Prenat Diagn 1984;4:5-44.
3. Dohle GR, Halley DJ, Van Hemel JO, et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 2002;17:13-6.
4. Gekas J, Thepot F, Turleau C, et al. Chromosomal factors of infertility in candidate couples for ICSI: An equal risk of constitutional aberrations in women and men. Hum Reprod 2001;16:82-90.
5. Mau UA, Backert IT, Kaiser P, et al. Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum Reprod 1997;12:930-7.
6. Peschka B, Leygraaf J, Vander Ven K, et al. Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Hum Reprod 1999;14:2257-63.
7. Scholtes MC, Behrend C, Dietzel-Dahmen J, et al. Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: Influence on implantation and ongoing pregnancy rates. Fertil Steril 1998;70:933-7.
8. Vander Ven K, Peschka B, Montag M, et al. Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum Reprod 1998;13:48-54.
9. Jalbert P, Sele B, Jalbert H. Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing. Hum Genet 1980;55:209-22.
10. Jalbert P. Genetic counseling in reciprocal translocations. J Genet Hum 1988;36:3-14.
11. Estop AM, Van KV, Cieply K. Segregation analysis of four translocations, t(2;18), t(3;15), t(5;7), and t(10;12), by sperm chromosome studies and a review of the literature. Cytogenet Cell Genet 1995;70:80-7.
12. Van Hummelen P, Manchester D, Lowe X, et al. Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10) (p22.1;q22.3) reciprocal translocation carrier by t. Am J Hum Genet 1997;61:651-9.
13. Boué A, Gallano P. A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 1984;4(special issue):45-67.
14. Daniel A, Hook EB, Wulf G. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratories. Am J Med Genet 1989;33:14-53.
15. Stallard R, Krueger S, James RS, et al. Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q). Am J Med Genet 1995;57:14-8.
16. Preimplantation Genetic Diagnosis Consortium ESHRE. Data collection III (May 2001). Hum Reprod 2002;17:233-46.
17. Jacobs PA, Frackiewicz A, Law P, et al. The effect of structural aberrations of the chromosomes on reproductive fitness in man. II. Results. Clin Genet 1975;8:169-78.
18. Simpson JL, Meyers CM, Martin AO, et al. Translocations are infrequent among couples having repeated spontaneous abortions but no other abnormal pregnancies. Fertil Steril 1989;51:811-4.
19. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints. Am J Hum Genet 1991;49:995-1013.
20. Simpson JL. Changing indications for preimplantation genetic diagnosis (PGD). Mol Cell Endocrinol 2001;183(Suppl 1):S69-75.
21. Conn CM, Cozzi J, Harper JC, et al. Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism. J Med Genet 1999;36:45-50.
22. Munné S. Preimplantation genetic diagnosis of structural abnormalities. Mol Cell Endocrinol 2001;183(Suppl 1):S55-8.
23. Munné S, Magli C, Bahce M, et al. Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat Diagn 1998;18:1459-66.
24. Munné S, Sandalinas M, Escudero T, et al. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril 2000;73:1209-18.
25. Weier HU, Munné S, Fung J. Patient-specific probes for preimplantation genetic diagnosis of structural and numerical aberrations in interphase cells. J Assist Reprod Genet 1999;16:182-91.
26. Scriven PN, Handyside AH, Ogilvie CM. Chromosome translocations: Segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn 1998;18:1437-49.
27. Canki N, Dutrillaux B. Two cases of familial paracentric inversion in man associated with sex chromosome anomaly. 47,XXY,inv (5) (q21q32) and 45,X,inv(7) (q11.3q22.3). Hum Genet 1979;47:261-8.
28. Couzin DA, Watt JL, Stephen GS. Structural rearrangements in the parents of children with primary trisomy 21. J Med Genet 1987;24:280-2.
29. Serra A, Brahe C, Millington-Ward A, et al. Pericentric inversion of chromosome 9: Prevalence in 300 Down syndrome families and molecular studies of nondisjunction. Am J Med Genet Suppl 1990;7:162-8.
30. Hecht F, Patil SR. Interchromosomal effect in man. Clin Genet 1977;12:189-90.
31. Lindenbaum RH, Hulten M, McDermott A, et al. The prevalence of translocations in parents of children with regular trisomy 21: A possible interchromosomal effect? J Med Genet 1985;22:24-8.
32. Schinzel AA, Adelsberger PA, Binkert F, et al. No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements. Am J Hum Genet 1992;50:288-93.
33. Guttenbach M, Engel W, Schmid M. Analysis of structural and numerical chromosome abnormal-y(1998a). Cathepsin L2, ities in sperm of normal men and carriers of constitutional chromosome aberrations. A review. Hum Genet 1997;100:1-21.
34. Estop AM, Cieply K, Munne S, et al. Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies. Hum Genet 2000;106:517-24.
35. Hennebicq S, Pelletier R, Bergues U, et al. Risk of trisomy 21 in offspring of patients with Klinefelter's syndrome. Lancet 2001;357:2104-5.
36. Pellestor F, Imbert I, Andreo B, et al. Study of the occurrence of interchromosomal rearrangement carriers by flourescence in-situ hybridization and primed in-situ labelling techniques. Hum Reprod 2001;16:115-64.