The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte. 1992

P Simi, and M Ceccarelli, and A Barachini, and G Floridia, and O Zuffardi
Laboratorio di Citogenetica, Universitá di Pisa, Italy.

Carriers of the standard translocation t(11;22) (q23.3;q11.2) produce only one type of unbalanced offspring, a tertiary trisomy resulting into the karyotype 47,XX or XY, +der(22)t(11;22)(q23.3;q11.2), usually derived from the mother. The exception is one single patient 47,XY,t(11;22)(q23.3;q11.2), +der(22)t(11;22) (q23.3;q11.2)pat. We report a second case with the same karyotype, also of paternal origin. Thus, the rare unbalanced offspring of a carrier father (only 5 cases known) may receive a supernumerary der(22), as a consequence of tertiary trisomy, but also as a consequence of nondisjunction at meiosis II of a balanced spermatocyte.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008214 Lymphocytes White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS. Lymphoid Cells,Cell, Lymphoid,Cells, Lymphoid,Lymphocyte,Lymphoid Cell
D008297 Male Males
D008540 Meiosis A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells. M Phase, Meiotic,Meiotic M Phase,M Phases, Meiotic,Meioses,Meiotic M Phases,Phase, Meiotic M,Phases, Meiotic M
D009630 Nondisjunction, Genetic The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none. Genetic Non-Disjunction,Genetic Nondisjunction,Non-Disjunction, Genetic,Genetic Non Disjunction,Genetic Non-Disjunctions,Genetic Nondisjunctions,Non Disjunction, Genetic,Non-Disjunctions, Genetic,Nondisjunctions, Genetic
D002871 Chromosome Banding Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping. Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D002880 Chromosomes, Human, Pair 11 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 11
D002892 Chromosomes, Human, Pair 22 A specific pair of GROUP G CHROMOSOMES of the human chromosome classification. Chromosome 22
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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