Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer Eeva-Maria Laitinen, M.D., Johanna.

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Presentation transcript:

Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer Eeva-Maria Laitinen, M.D., Johanna Tommiska, Ph.D., Leo Dunkel, M.D., Ph.D., Ulla Sankilampi, M.D., Kirsi Vaaralahti, M.Sc., Taneli Raivio, M.D., Ph.D. Fertility and Sterility Volume 93, Issue 6, Pages 2074.e13-2074.e16 (April 2010) DOI: 10.1016/j.fertnstert.2009.11.013 Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

Figure 1 (A) Genomic sequence of the mother showing a heterozygous FGFR1 mutation c.2049-1 G → C in intron 15. (B) Agarose gel electrophoresis of FGFR1 cDNA PCR products. A 750–800 bp band (arrow, lane 2) was amplified from the cDNA synthesized from the peripheral blood lymphocyte RNA of the mother (lane 2). This band was not amplified from the cDNA derived from the control subject negative for this mutation (lane 3). Lane 1, size marker 100 bp ladder (GeneRuler, Fermentas, Ontario, Canada). (C) cDNA sequence demonstrating skipping of the exon 16. Fertility and Sterility 2010 93, 2074.e13-2074.e16DOI: (10.1016/j.fertnstert.2009.11.013) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions