The Experts below are selected from a list of 249 Experts worldwide ranked by ideXlab platform
T. De Ravel - One of the best experts on this subject based on the ideXlab platform.
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chimerism in black southern african patients with True Hermaphroditism 46 xx 47xy 21 and 46 xx 46 xy
Annals of the New York Academy of Sciences, 2009Co-Authors: Michèle Ramsay, W. Pfaffenzeller, E. Kotze, L. Bhengu, F. Essop, T. De RavelAbstract:True Hermaphroditism is defined by the presence of both testicular and ovarian tissue in an individual. True hermaphrodites usually present at birth with ambiguous genitalia, and subsequent invasive investigations are needed to confirm the diagnosis. Several large cohorts of black South Africans with True Hermaphroditism have been described, and by far the majority of those investigated had a 46,XX karyotype, with absence of the SRY sequence. This paper represents the first report of the molecular investigation of mosiacism/chimerism as the cause of Hermaphroditism in black southern African patients. It is the second report worldwide of a 46,XX/47,XY,+21 chimera, with the first described in a Japanese infant in 1994. Case 1 in the present study is a child who is a 46,XX/47,XY,+21 tetragametic chimera. Molecular studies revealed two paternal and two maternal alleles at four of ten STR loci investigated and three alleles at four of these loci. The young boy exhibited no features of Down syndrome, other than a unilateral single palmar crease. Cases 2 and 3 both have a 46,XX/46,XY karyotype. Chimerism is supported by molecular analysis in Case 2, and molecular studies were not done for Case 3.
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Chimerism in black southern African patients with True Hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY.
Annals of the New York Academy of Sciences, 2008Co-Authors: Michèle Ramsay, W. Pfaffenzeller, E. Kotze, L. Bhengu, F. Essop, T. De RavelAbstract:True Hermaphroditism is defined by the presence of both testicular and ovarian tissue in an individual. True hermaphrodites usually present at birth with ambiguous genitalia, and subsequent invasive investigations are needed to confirm the diagnosis. Several large cohorts of black South Africans with True Hermaphroditism have been described, and by far the majority of those investigated had a 46,XX karyotype, with absence of the SRY sequence. This paper represents the first report of the molecular investigation of mosiacism/chimerism as the cause of Hermaphroditism in black southern African patients. It is the second report worldwide of a 46,XX/47,XY,+21 chimera, with the first described in a Japanese infant in 1994. Case 1 in the present study is a child who is a 46,XX/47,XY,+21 tetragametic chimera. Molecular studies revealed two paternal and two maternal alleles at four of ten STR loci investigated and three alleles at four of these loci. The young boy exhibited no features of Down syndrome, other than a unilateral single palmar crease. Cases 2 and 3 both have a 46,XX/46,XY karyotype. Chimerism is supported by molecular analysis in Case 2, and molecular studies were not done for Case 3.
Ferdinando Valentini - One of the best experts on this subject based on the ideXlab platform.
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Syndromic True Hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX True Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX True Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with True Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX True Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
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syndromic True Hermaphroditism due to an r spondin1 rspo1 homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX True Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX True Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with True Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX True Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
Yu-feng Huang - One of the best experts on this subject based on the ideXlab platform.
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The mechanism of tetragametic chimerism in a True Hermaphroditism with 46, XX/46 ,XY
National journal of andrology, 2004Co-Authors: Ying-xia Cui, Pei-yuan Zhu, Yong-mei Wang, Hong-lin Yin, Bing Yao, Yu-feng HuangAbstract:OBJECTIVE: To report a True Hermaphroditism due to a teragametic chimerism and to discuss the pathogenesis of tetragametic chimerism. METHODS: Chromosomal analysis and fluorescence in situ hybridization(FISH) were carried out on the lymphocytes from the blood and on the fibroblasts from the cultured skin and on fibroblasts from two different kinds of gonadal tissues of the patient with ambiguous genitalia respectively. Blood groups, human leukocyte antigen (HLA) haplotyping and 77 short tandem repeat (STR) microsatellite markers were tested. The two kinds of tissues in the gonad were detected by histopathological examination. Blood groups, HLA haplotying and 77 STR microsatellite markers parents of the patient's were also analyzed. RESULTS: Either 46,XX or 46,XY karyotype was found in the lymphocytes of the blood and in the fibroblasts of the cultured skin and of the two different kinds of gonadal tissues. Two X chromosome-specific signals or one X and one Y signal were detected in each interphase nucleus by FISH from the lymphocytes of the blood and the fibroblasts of three different tissue cultures. The karyotype of the 46,XY cell line predominated in all cultures except the cultured-fibroblasts from yellow gonadal tissues. STR marker analysis, ABO grouping and HLA study from the patient were identified a single haplotype in the patient from the mother and two different haplotypes from the father. Two kinds of tissues in the gonad were observed by histopathological examination. The yellow tissue was ovary and the white one was testis. CONCLUSIONS: Histopathological examination and chromosomal analysis combined with FISH are very useful methods for the diagnosis of True Hermaphroditism. Blood typing, HLA and short tandem repeat microsatellite markers afford strong evidence for confirming tetragametic chimerism. The mechanism of tetragametic chimerism in True Hermaphroditism can be explained by a parthenogenetic division of a haploid nucleu into two identical gametes, followed by fertilization with both X and Y spermatozoa and then developed into an organism.
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the mechanism of tetragametic chimerism in a True Hermaphroditism with 46 xx 46 xy
National journal of andrology, 2004Co-Authors: Ying-xia Cui, Pei-yuan Zhu, Yong-mei Wang, Hong-lin Yin, Bing Yao, Yu-feng HuangAbstract:OBJECTIVE To report a True Hermaphroditism due to a teragametic chimerism and to discuss the pathogenesis of tetragametic chimerism. METHODS Chromosomal analysis and fluorescence in situ hybridization(FISH) were carried out on the lymphocytes from the blood and on the fibroblasts from the cultured skin and on fibroblasts from two different kinds of gonadal tissues of the patient with ambiguous genitalia respectively. Blood groups, human leukocyte antigen (HLA) haplotyping and 77 short tandem repeat (STR) microsatellite markers were tested. The two kinds of tissues in the gonad were detected by histopathological examination. Blood groups, HLA haplotying and 77 STR microsatellite markers parents of the patient's were also analyzed. RESULTS Either 46,XX or 46,XY karyotype was found in the lymphocytes of the blood and in the fibroblasts of the cultured skin and of the two different kinds of gonadal tissues. Two X chromosome-specific signals or one X and one Y signal were detected in each interphase nucleus by FISH from the lymphocytes of the blood and the fibroblasts of three different tissue cultures. The karyotype of the 46,XY cell line predominated in all cultures except the cultured-fibroblasts from yellow gonadal tissues. STR marker analysis, ABO grouping and HLA study from the patient were identified a single haplotype in the patient from the mother and two different haplotypes from the father. Two kinds of tissues in the gonad were observed by histopathological examination. The yellow tissue was ovary and the white one was testis. CONCLUSIONS Histopathological examination and chromosomal analysis combined with FISH are very useful methods for the diagnosis of True Hermaphroditism. Blood typing, HLA and short tandem repeat microsatellite markers afford strong evidence for confirming tetragametic chimerism. The mechanism of tetragametic chimerism in True Hermaphroditism can be explained by a parthenogenetic division of a haploid nucleu into two identical gametes, followed by fertilization with both X and Y spermatozoa and then developed into an organism.
Sara Tomaselli - One of the best experts on this subject based on the ideXlab platform.
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Syndromic True Hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX True Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX True Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with True Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX True Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
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syndromic True Hermaphroditism due to an r spondin1 rspo1 homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX True Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX True Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with True Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX True Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
Michèle Ramsay - One of the best experts on this subject based on the ideXlab platform.
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chimerism in black southern african patients with True Hermaphroditism 46 xx 47xy 21 and 46 xx 46 xy
Annals of the New York Academy of Sciences, 2009Co-Authors: Michèle Ramsay, W. Pfaffenzeller, E. Kotze, L. Bhengu, F. Essop, T. De RavelAbstract:True Hermaphroditism is defined by the presence of both testicular and ovarian tissue in an individual. True hermaphrodites usually present at birth with ambiguous genitalia, and subsequent invasive investigations are needed to confirm the diagnosis. Several large cohorts of black South Africans with True Hermaphroditism have been described, and by far the majority of those investigated had a 46,XX karyotype, with absence of the SRY sequence. This paper represents the first report of the molecular investigation of mosiacism/chimerism as the cause of Hermaphroditism in black southern African patients. It is the second report worldwide of a 46,XX/47,XY,+21 chimera, with the first described in a Japanese infant in 1994. Case 1 in the present study is a child who is a 46,XX/47,XY,+21 tetragametic chimera. Molecular studies revealed two paternal and two maternal alleles at four of ten STR loci investigated and three alleles at four of these loci. The young boy exhibited no features of Down syndrome, other than a unilateral single palmar crease. Cases 2 and 3 both have a 46,XX/46,XY karyotype. Chimerism is supported by molecular analysis in Case 2, and molecular studies were not done for Case 3.
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Chimerism in black southern African patients with True Hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY.
Annals of the New York Academy of Sciences, 2008Co-Authors: Michèle Ramsay, W. Pfaffenzeller, E. Kotze, L. Bhengu, F. Essop, T. De RavelAbstract:True Hermaphroditism is defined by the presence of both testicular and ovarian tissue in an individual. True hermaphrodites usually present at birth with ambiguous genitalia, and subsequent invasive investigations are needed to confirm the diagnosis. Several large cohorts of black South Africans with True Hermaphroditism have been described, and by far the majority of those investigated had a 46,XX karyotype, with absence of the SRY sequence. This paper represents the first report of the molecular investigation of mosiacism/chimerism as the cause of Hermaphroditism in black southern African patients. It is the second report worldwide of a 46,XX/47,XY,+21 chimera, with the first described in a Japanese infant in 1994. Case 1 in the present study is a child who is a 46,XX/47,XY,+21 tetragametic chimera. Molecular studies revealed two paternal and two maternal alleles at four of ten STR loci investigated and three alleles at four of these loci. The young boy exhibited no features of Down syndrome, other than a unilateral single palmar crease. Cases 2 and 3 both have a 46,XX/46,XY karyotype. Chimerism is supported by molecular analysis in Case 2, and molecular studies were not done for Case 3.
