Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection  Celia Ravel, M.D., Sandra Chantot-Bastaraud, M.D., Jean-Pierre Siffroi, M.D., Denise Escalier, Ph.D., Jean-Marie Antoine, M.D., Jacqueline Mandelbaum, M.D.  Fertility and Sterility  Volume 86, Issue 3, Pages 719.e1-719.e7 (September 2006) DOI: 10.1016/j.fertnstert.2005.12.078 Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 1 Genealogy of the family. Ravel. Tail syndrome, translocation, and ICSI. Fertil Steril 2006. Fertility and Sterility 2006 86, 719.e1-719.e7DOI: (10.1016/j.fertnstert.2005.12.078) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 2 (A) Partial karyotype displaying the two translocated chromosome pairs (chromosomal breakpoints are indicated by arrows). (B) FISH using 5p (green), 12p (green), and 12q (red) probes. The abnormal chromosome 5 carries only the 12q signal, whereas the translocated chromosome 12 carries two short arm signals. Ravel. Tail syndrome, translocation, and ICSI. Fertil Steril 2006. Fertility and Sterility 2006 86, 719.e1-719.e7DOI: (10.1016/j.fertnstert.2005.12.078) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 3 Electron microscopy of spermatozoa of case 1. (a) A general view of the sperm cells exhibiting an absence of elongated flagella. The sperm nuclei exhibit an irregular shape and are, most frequently, abnormally enlarged. (b) A section of the neck region of a spermatozoon displaying the formation of multiple connective pieces that can correspond to four centriole pairs. (c) A spermatozoon with an enlarged nucleus and two connective pieces. No other flagella structures are observed. (d) A spermatozoon displaying misassembly of the flagella structures in a cytoplasmic remnant. (e) A section of a flagella middle piece displaying missassembly and the absence of some axonemal components. The microtubule B wall is incomplete in four of the five doublets present. (f) A section at the level of the principal piece of the flagellum, which contains an axoneme lacking the central pair of microtubules and an absence of many dynein arms. As in e, the microtubule B wall is incomplete in four doublets. Additional doublets and dense fibers are located close to the membrane. The fibrous sheath presents several layers and is misassembled. Bars: a, c, d = 0.5 μm; b, e, f = 0.2 μm. Ravel. Tail syndrome, translocation, and ICSI. Fertil Steril 2006. Fertility and Sterility 2006 86, 719.e1-719.e7DOI: (10.1016/j.fertnstert.2005.12.078) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 4 Electron microscopy of spermatozoa of case 2. (a) A binucleated spermatozoon with a large cytoplasmic remnant devoid of axonemal and periaxonemal structures. (b) A spermatozoa with a large nucleus containing poorly condensed chromatin. Structures that can correspond to elements of the fibrous sheath are present in the cytoplasm, whereas elements of the axoneme and the dense fibers are not observed. Bars: a, b: 0.5 μm. Ravel. Tail syndrome, translocation, and ICSI. Fertil Steril 2006. Fertility and Sterility 2006 86, 719.e1-719.e7DOI: (10.1016/j.fertnstert.2005.12.078) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions