Meiotic Studies of a Human Male Carrier of the Common Translocation, t(11;22), Suggests Postzygotic Selection rather than Preferential 3:1 MI Segregation.

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Meiotic Studies of a Human Male Carrier of the Common Translocation, t(11;22), Suggests Postzygotic Selection rather than Preferential 3:1 MI Segregation as the Cause of Liveborn Offspring with an Unbalanced Translocation Susan J. Armstrong, Alastair S.H. Goldman, Robert M. Speed, Maj A. Hultén The American Journal of Human Genetics Volume 67, Issue 3, Pages 601-609 (September 2000) DOI: 10.1086/303052 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 a, Ideogram showing the balanced translocation in J.B. b, Expected pairing configuration at pachytene. The chromosome segments have been designated I–VI, and they are defined as follows: I, 11p-11cen; II, 11 cen-11q23 (11q interstitial segment); III, 11q23-11qter (11q translocated segment); IV, 22qter-22q11 (22q translocated segment); V, 22q11-22cen (22q interstitial segment); and VI, 22cen-22pter. The American Journal of Human Genetics 2000 67, 601-609DOI: (10.1086/303052) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Electron micrograph of a surface-spread and silver-stained pachytene nuclei. a, Quadrivalent fully synapsed but with some asymmetry in the region of the breakpoints. b, Incomplete synapsis, with an asynaptic region around the breakpoints. c–e, FISH and diagram representing quadrivalents of metaphase I nuclei. Chromosome 11 hybridized with directly labeled (with FITC) chromosome 11 paint, and chromosome 22 hybridized with biotinylated paint detected with Texas Red. Panels c–e show quadrivalents. c, Complete ring with five chiasmata. d, “Branched” ring with four chiasmata. e, Chain with three chiasmata. f, FISH of a metaphase II cell (probes and detection as for c–e): alternate/adjacent I segregant, containing asymmetric 11/der(11) (denoted by a star) and der(22). The American Journal of Human Genetics 2000 67, 601-609DOI: (10.1086/303052) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 a, c, and e, Outcome of first-meiotic segregation from the complete ring configuration with five chiasmata (black crosses), two of which are interstitial in both chromosome 11 (green) and chromosome 22 (red) 2:2 segregation. Note that interstitial chiasmata render alternate (a) and adjacent I (b) identical outcomes. g, 3:1 segregation—only segregants A, B, and B′ have potential to produce either 24,t(11;22) +der(22) or 24,+der(22). b, d, f, and h, Outcome of first-meiotic segregation from the “branched” ring configuration with four chiasmata (no interstital chiasma in chromosome 22). In panel h, only segregants A, B, and B′ have the potential to produce 24,+der(22) but not 24,t(11;22)+der(22) segregants. The American Journal of Human Genetics 2000 67, 601-609DOI: (10.1086/303052) Copyright © 2000 The American Society of Human Genetics Terms and Conditions