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).
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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
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DOI: https://doi.org/10.1007/978-1-4613-0139-4_16
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