Hypergonadotropic hypogonadism in a patient with inv ins (2;4) |
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| Authors: | Tzschach A Ramel C Kron A Seipel B Wüster C Cordes U Liehr T Hoeltzenbein M Menzel C Ropers H-H Ullmann R Kalscheuer V Decker J Steinberger D |
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| Affiliation: | Max Planck Institute for Molecular Genetics, Berlin;, Practice of Human Genetics, Friedrichstrasse, Berlin;, Bioscientia Center for Human Genetics, Ingelheim;, Endocrinology and Internal Medicine, Mainz;, and Institute of Human Genetics and Anthropology, Friedrich-Schiller-University, Jena, Germany |
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| Abstract: | We report on a 30-year-old man with azoospermia, primary hypogonadism and minor dysmorphic features who carried a balanced insertional chromosome translocation inv ins (2p24;4q28.3q31.22) de novo . Molecular cytogenetic analyses of the chromosome breakpoints revealed the localization of the breakpoint in 4q28.3 between BACs RP11-143E9 and RP11-285A15, an interval that harbours the PCDH10 gene. In 4q31.22, a breakpoint-spanning clone (RP11-6L6) was identified which contains the genes LSM6 and SLC10A7 . On chromosome 2, BACs RP11-531P14 and RP11-360O18 flank the breakpoint in 2p24, a region void of known genes. In conclusion, the chromosome aberration of this patient suggests a gene locus for primary hypogonadism in 2p24, 4q28.3 or 4q31.2, and three possible candidate genes ( LSM6 , SLC10A7 and PCDH10 ) were identified by breakpoint analyses. |
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| Keywords: | array CGH azoospermia balanced chromosome aberration hypergonadotropic hypogonadism insertional translocation primary hypogonadism |
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