The Experts below are selected from a list of 6 Experts worldwide ranked by ideXlab platform
H.h. Ropers - One of the best experts on this subject based on the ideXlab platform.
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Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
International journal of andrology, 2007Co-Authors: Andreas Tzschach, Christian Ramel, A. Kron, B. Seipel, C. Wüster, U. Cordes, Thomas Liehr, Maria Hoeltzenbein, Corinna Menzel, H.h. RopersAbstract:Summary 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 (RP116L6) 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.
Andreas Tzschach - One of the best experts on this subject based on the ideXlab platform.
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Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
International journal of andrology, 2007Co-Authors: Andreas Tzschach, Christian Ramel, A. Kron, B. Seipel, C. Wüster, U. Cordes, Thomas Liehr, Maria Hoeltzenbein, Corinna Menzel, H.h. RopersAbstract:Summary 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 (RP116L6) 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.
Christian Ramel - One of the best experts on this subject based on the ideXlab platform.
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Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
International journal of andrology, 2007Co-Authors: Andreas Tzschach, Christian Ramel, A. Kron, B. Seipel, C. Wüster, U. Cordes, Thomas Liehr, Maria Hoeltzenbein, Corinna Menzel, H.h. RopersAbstract:Summary 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 (RP116L6) 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.
A. Kron - One of the best experts on this subject based on the ideXlab platform.
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Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
International journal of andrology, 2007Co-Authors: Andreas Tzschach, Christian Ramel, A. Kron, B. Seipel, C. Wüster, U. Cordes, Thomas Liehr, Maria Hoeltzenbein, Corinna Menzel, H.h. RopersAbstract:Summary 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 (RP116L6) 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.
B. Seipel - One of the best experts on this subject based on the ideXlab platform.
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Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
International journal of andrology, 2007Co-Authors: Andreas Tzschach, Christian Ramel, A. Kron, B. Seipel, C. Wüster, U. Cordes, Thomas Liehr, Maria Hoeltzenbein, Corinna Menzel, H.h. RopersAbstract:Summary 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 (RP116L6) 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.