Abstract
Robertsonian translocations (RTs) involving two acrocentric chromosomes do not affect the phenotype, apart from occasional male sterility. RTs are about 10 times more frequent in male infertility clinics than in the newborn population (Zuffardi and Tiepolo, 1982). RTs do attach to the sex vesicle (Guichaoua et al., 1990), and this may lead to spreading of inactivation from the XY bivalent into the adjacent autosomal segment. The incidence of RTs is not increased in mentally retarded patient populations. The loss of two acrocentric short arms has no phenotypic effect, indicating that they contain no essential single-copy genes and that loss of some of the multicopy rRNA genes is well tolerated. In a family in which the parents were first cousins and heterozygous carriers of a t(13ql4q), three children were phenotypically normal despite their homozygosity for the translocation chromosome and consequent loss of four of the 10 acrocentric short arms (Martinez-Castro et al., 1984).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Barnicoat AJ, Abusaad I, Mackie CM, et al. (1997) Two sibs with partial trisomy 2q. Am J Med Genet 70:166–170
Boue A, Gallano P (1984) A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 4:45–67
Brown GM, Leversha M, Hulten M, et al. (1998) Genetic analysis of meiotic recombination in humans by use of sperm typing: reduced recombination within a heterozygous paracentric inversion of chromosome 9q32-q34.3. Am J Hum Genet 62:1484–1492
Fryns JP, Kleczkowska A, Kubien E, et al. (1984) Cytogenetic survey in couples with recurrent fetal wastage. Hum Genet 65:336–354
Funderburk SJ, Spence MA, Sparkes RS (1977) Mental retardation associated with “balanced” chromosome rearrangements. Am J Hum Genet 29: 136–141
Furbetta M, Falorni A, Antignani P, et al. (1973) Sibship (21q21q) translocation Down’s syndrome with maternal transmission. J Med Genet 10:371–375
Guichaoua MR, Quack B, Speed RM, et al. (1990) Infertility in human males with autosomal translocations: meiotic study of a 14,22 Robertsonian translocation. Hum Genet 86:162–166
Guttenbach M, Engel W, Schmid M (1997) Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review. Hum Genet 100: 1–21
Habedank M, Faust J (1978) Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9,21) (pll,qll). Hum Genet 42:251–256
Hook EB, Hamerton JL (1977) The frequency of chromosome abnormalities detected in consecutive newborn studies-differences between studies-results by sex and by severity of phenotypic involvement. In: Hook EB, Porter IH (eds) Population cytogenetics. Academic, New York, pp 63–79
ISCN; Mitelman F (ed) (1995) An international system for human cytogenetic nomenclature (1995). Karger, Basel, 1995
Jaarola M, Martin RH, Ashley T (1998) Direct evidence for suppression of recombination within two pericentric inversions in humans: a new sperm-FISH technique. Am J Hum Genet 63:218–224
Kajii T, Meylan J, Mikamo K (1974) Chromosome anomalies in three successive abortuses due to paternal translocation, t(l 3q-,18q+). Cytogenet Cell Genet 13:426–436
Kirkels VGHJ, Hustinx TWJ, Scheres JMJC (1980) Habitual abortion and translocation (22q; 22q): unexpected transmission from a mother to her phenotypically normal daughter. Clin Genet 18:456–461
Kumar A, Becker LA, Depinet TW, et al. (1998) Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements. Hum Genet 103:173–178
Lindenbaum RH, Bobrow M (1975) Reciprocal translocations in man. 3:1 meiotic disjunction resulting in 47-or 45-chromosome offspring. J Med Genet 12:29–43
Madan K, Menko FH (1992) Intrachromosomal insertions: a case report and a review. Hum Genet 89:1–9
Madan K, Nieuwint AWM, Bever Y van (1997) Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum Genet 99:806–815
Malaspina D, Warburton D, Amador X, et al. (1992) Association of schizophrenia and partial trisomy of chromosome 5p. Schizophrenia Res 7: 191–199
Martin RH (1988a) Human sperm karyotyping: a tool for the study of aneuploidy. In: Vig BK, Sandberg AA (eds) Aneuploidy, Part B: Induction and test systems. Liss, New York, pp 297–316
Martin RH (1988b) Abnormal spermatozoa in human translocation and inversion carriers. In: Daniel A (ed) The cytogenetics of mammalian autosomal rearrangements. Liss, New York, pp 319–417
Martinez-Castro P, Ramos MC, Rey JA, et al. (1984) Homozygosity for a Robertsonian translocation (13ql4q) in three offspring of heterozygous parents. Cytogenet Cell Genet 38:310–312
Niikawa N, Ishikawa M (1983) Whole-arm translocation between homologous chromosomes 7 in a woman with successive spontaneous abortions. Hum Genet 63:85–86
Olson SB, Magenis RE (1988) Preferential paternal origin of de novo structural chromosome rearrangements. In: Daniel A (ed) The cytogenetics of mammalian autosomal rearrangements. Liss, New York, 583–599
Pellestor F (1990) Analysis of meiotic segregation in a man heterozygous for a 13,15 Robertsonian translocation and a review of the literature. Hum Genet 85:49–54
Rossiter JP, Young M, Kimberland ML, et al. (1994) Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 3:1035–1039
Toomey KE, Mohandas T, Sparkes RS, et al. (1978) Segregation of an insertional chromosome rearrangement in 3 generations. J Med Genet 15:382–387
Trunca C, Opitz JM (1997) Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31-14qter), Am J Med Genet 1:217–228
Zackai EH, Emanuel BS (1980) Site-specific reciprocal translocation, t(11; 22) (q23,ql 1), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet 7:507–521
Zuffardi O, Tiepolo L (1982) Frequencies and types of chromosome abnormalities associated with human male infertility. In: Crosignani PG, Rubin BL (eds) Genetic control of gamete production and function. Academic, London, pp 261–273
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2001 Springer Science+Business Media New York
About this chapter
Cite this chapter
Miller, O.J., Therman, E. (2001). Clinical Importance of Translocations, Inversions, and Insertions. In: Human Chromosomes. Springer, New York, NY. https://doi.org/10.1007/978-1-4613-0139-4_16
Download citation
DOI: https://doi.org/10.1007/978-1-4613-0139-4_16
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-95046-4
Online ISBN: 978-1-4613-0139-4
eBook Packages: Springer Book Archive