Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype Gulseren Bagci, Ph.D., Atil Bisgin, M.D., Ph.D., Sibel Berker Karauzum, Ph.D., Bilal Trak, M.D., Guven Luleci, Ph.D. Fertility and Sterility Volume 95, Issue 5, Pages 1786.e1-1786.e3 (April 2011) DOI: 10.1016/j.fertnstert.2010.11.034 Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions
Figure 1 Family pedigree. There are three cases in the family: two sisters and their mother's maternal aunt. Fertility and Sterility 2011 95, 1786.e1-1786.e3DOI: (10.1016/j.fertnstert.2010.11.034) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions
Figure 2 Multiplex polymerase chain reaction results on ethidium bromide–stained 4% agarose gel for the patients, with no amplification in SY14, gene SRY. In each group, from left to right, lane 1 is the negative control, lane 2 is the father of the proband (III-1), lane 3 is the proband (IV-1), lane 4 is the mother of the proband (III-2), lane 5 is the positive control, and lane 6 is the marker. Fertility and Sterility 2011 95, 1786.e1-1786.e3DOI: (10.1016/j.fertnstert.2010.11.034) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions