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Premature ovarian failure in a patient with a complex chromosome rearrangement involving the critical region Xq24, characterized by analysis using fluorescence.

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Presentation on theme: "Premature ovarian failure in a patient with a complex chromosome rearrangement involving the critical region Xq24, characterized by analysis using fluorescence."— Presentation transcript:

1 Premature ovarian failure in a patient with a complex chromosome rearrangement involving the critical region Xq24, characterized by analysis using fluorescence in situ hybridization by chromosome microdissection  Jörg Weimer, Ph.D., Subramaniyam Shivakumar, M.Sc., Ph.D., Sumita Danda, M.D., Nihal Thomas, M.D., Laia Pagerolls Ralui, Ph.D., Walter Jonat, M.D., Norbert Arnold, Ph.D.  Fertility and Sterility  Volume 88, Issue 6, Pages 1677.e e13 (December 2007) DOI: /j.fertnstert Copyright © 2007 American Society for Reproductive Medicine Terms and Conditions

2 Figure 1 The proved rearranged chromosomes (above) are only possible when a complex rearrangement (arrows) follows a pericentric inversion of X chromosome. The model of the rearrangement is in accordance with a G-band pattern of the derivative chromosomes. Fertility and Sterility  , 1677.e e13DOI: ( /j.fertnstert ) Copyright © 2007 American Society for Reproductive Medicine Terms and Conditions

3 Figure 2 Left, metaphases of the patient in phase contrast before (upper) and after (lower) microdissection. Chromosome types are identified by FISH of whole chromosome probe-4 in green, whole chromosome probe-X in red, and whole chromosome probe-8 in blue. Right, reverse paint of the isolated chromosomes on unsuspicious male chromosomes. The DNA of der(4) has been labeled in red, that of der(X) has been labeled in green, and that of der(8) has been labeled in blue. Fertility and Sterility  , 1677.e e13DOI: ( /j.fertnstert ) Copyright © 2007 American Society for Reproductive Medicine Terms and Conditions


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