An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16  Johannnes G. Dauwerse, B.Sc., Kerstin B.M. Hansson, Ph.D., Ad A.M. Brouwers, M.D., Dorien J.M. Peters, Ph.D., Martijn H. Breuning, M.D.  Fertility and Sterility  Volume 86, Issue 2, Pages 463.e1-463.e5 (August 2006) DOI: 10.1016/j.fertnstert.2005.12.062 Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 1 Schematic representation of the BAC/PAC contigs covering part of Y11.2/Y-PAR and Xp22.3/X-PAR. The BACs marked with * also hybridize on Xq21; the BACs marked with # were not available for hybridization; and the BACs marked with a black bar hybridize in the patient to 16qter. The SRY gene is located in clones RP11-112L19 and RP11-400o10. Dauwerse. XX male with SRY on chromosome 16. Fertil Steril 2006. Fertility and Sterility 2006 86, 463.e1-463.e5DOI: (10.1016/j.fertnstert.2005.12.062) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 2 The FISH on metaphase chromosomes of the patient, with RP11-155F12 in red, hybridizing to 16qter and to the PAR of both X chromosomes, and with RP4-617A9 in green, hybridizing to Xp22.3 on both X chromosomes. Dauwerse. XX male with SRY on chromosome 16. Fertil Steril 2006. Fertility and Sterility 2006 86, 463.e1-463.e5DOI: (10.1016/j.fertnstert.2005.12.062) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 3 The BAC/PAC map of the distal end of the long arm of chromosome 16. The most likely point of insertion in chromosome 16qter of the part of the Y chromosome is indicated. The BACs marked with a black bar are duplicated in the patient’s chromosome 16, which is carrying the SRY. Map positions are according to the Ensembl chromosome 16 map. Dauwerse. XX male with SRY on chromosome 16. Fertil Steril 2006. Fertility and Sterility 2006 86, 463.e1-463.e5DOI: (10.1016/j.fertnstert.2005.12.062) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions