The Experts below are selected from a list of 303 Experts worldwide ranked by ideXlab platform
Udo Trautmann - One of the best experts on this subject based on the ideXlab platform.
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Prenatal detection of double aneuploidy trisomy 10/Monosomy X in a liveborn twin with eXclusively Monosomy X in blood
Clinical genetics, 2008Co-Authors: G. Mielke, Herbert Enders, R. Goelz, Ute Klein-vogler, R. Ulmer, Udo TrautmannAbstract:Both double aneuploidy and trisomy 10 are rare chromosome findings. All five published cases of trisomy 10 in liveborns were found to be mosaic with an euploid cell line. In a liveborn female twin, double aneuploidy mosaicism 47,XX, + 10/45,X was detected prenatally by amniocentesis performed because of severe intrauterine growth retardation and malformations. Chromosome analysis from neonatal lymphocyte cultures revealed eXclusively the 45,X cell line. Double aneuploidy mosaicism trisomy 10/Monosomy X was confirmed from skin fibroblasts. The child died at the age of 7 weeks. This is the first reported case of double aneuploidy involving trisomy 10, and the first case of trisomy 10 without a normal cell line in a liveborn. Prenatal diagnosis of trisomy 10 in a liveborn has not been published so far. The case illustrates that in specific cases amniotic fluid cells may reflect the karyotype of the fetus better than blood.
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prenatal detection of double aneuploidy trisomy 10 Monosomy X in a liveborn twin with eXclusively Monosomy X in blood
Clinical Genetics, 2008Co-Authors: G. Mielke, Herbert Enders, R. Goelz, R. Ulmer, Ute Kleinvogler, Udo TrautmannAbstract:Both double aneuploidy and trisomy 10 are rare chromosome findings. All five published cases of trisomy 10 in liveborns were found to be mosaic with an euploid cell line. In a liveborn female twin, double aneuploidy mosaicism 47,XX, + 10/45,X was detected prenatally by amniocentesis performed because of severe intrauterine growth retardation and malformations. Chromosome analysis from neonatal lymphocyte cultures revealed eXclusively the 45,X cell line. Double aneuploidy mosaicism trisomy 10/Monosomy X was confirmed from skin fibroblasts. The child died at the age of 7 weeks. This is the first reported case of double aneuploidy involving trisomy 10, and the first case of trisomy 10 without a normal cell line in a liveborn. Prenatal diagnosis of trisomy 10 in a liveborn has not been published so far. The case illustrates that in specific cases amniotic fluid cells may reflect the karyotype of the fetus better than blood.
Dorothee Bourondal Soglio - One of the best experts on this subject based on the ideXlab platform.
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male pseudohermaphroditism and gonadal mosaicism in a 47 Xy 22 fetus
American Journal of Medical Genetics Part A, 2006Co-Authors: Melanie Beaulieu Bergeron, Danh Tranthanh, Jeanchristophe Fournet, Emmanuelle Lemyre, Nicole Lemieux, Dorothee Bourondal SoglioAbstract:Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological eXamination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous eXternal genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and Monosomy X, with 22%-50% of uterine cells having Monosomy X, while 85%-100% of right and 77%-96% of left testicular cells were XY. The distribution of seX chromosomes observed in these tissues could eXplain the seXual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in seXual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient.
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Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus.
American journal of medical genetics. Part A, 2006Co-Authors: Melanie Beaulieu Bergeron, Jeanchristophe Fournet, Emmanuelle Lemyre, Nicole Lemieux, Danh Tran-thanh, Dorothee Bourondal SoglioAbstract:Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological eXamination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous eXternal genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and Monosomy X, with 22%-50% of uterine cells having Monosomy X, while 85%-100% of right and 77%-96% of left testicular cells were XY. The distribution of seX chromosomes observed in these tissues could eXplain the seXual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in seXual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient.
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male pseudohermaphroditism and gonadal mosaicism in a 47 Xy 22 fetus
American Journal of Medical Genetics Part A, 2006Co-Authors: Melanie Beaulieu Bergeron, Danh Tranthanh, Jeanchristophe Fournet, Emmanuelle Lemyre, Nicole Lemieux, Dorothee Bourondal SoglioAbstract:Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological eXamination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous eXternal genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and Monosomy X, with 22%–50% of uterine cells having Monosomy X, while 85%–100% of right and 77%–96% of left testicular cells were XY. The distribution of seX chromosomes observed in these tissues could eXplain the seXual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in seXual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient. © 2006 Wiley-Liss, Inc.
G. Mielke - One of the best experts on this subject based on the ideXlab platform.
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Prenatal detection of double aneuploidy trisomy 10/Monosomy X in a liveborn twin with eXclusively Monosomy X in blood
Clinical genetics, 2008Co-Authors: G. Mielke, Herbert Enders, R. Goelz, Ute Klein-vogler, R. Ulmer, Udo TrautmannAbstract:Both double aneuploidy and trisomy 10 are rare chromosome findings. All five published cases of trisomy 10 in liveborns were found to be mosaic with an euploid cell line. In a liveborn female twin, double aneuploidy mosaicism 47,XX, + 10/45,X was detected prenatally by amniocentesis performed because of severe intrauterine growth retardation and malformations. Chromosome analysis from neonatal lymphocyte cultures revealed eXclusively the 45,X cell line. Double aneuploidy mosaicism trisomy 10/Monosomy X was confirmed from skin fibroblasts. The child died at the age of 7 weeks. This is the first reported case of double aneuploidy involving trisomy 10, and the first case of trisomy 10 without a normal cell line in a liveborn. Prenatal diagnosis of trisomy 10 in a liveborn has not been published so far. The case illustrates that in specific cases amniotic fluid cells may reflect the karyotype of the fetus better than blood.
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prenatal detection of double aneuploidy trisomy 10 Monosomy X in a liveborn twin with eXclusively Monosomy X in blood
Clinical Genetics, 2008Co-Authors: G. Mielke, Herbert Enders, R. Goelz, R. Ulmer, Ute Kleinvogler, Udo TrautmannAbstract:Both double aneuploidy and trisomy 10 are rare chromosome findings. All five published cases of trisomy 10 in liveborns were found to be mosaic with an euploid cell line. In a liveborn female twin, double aneuploidy mosaicism 47,XX, + 10/45,X was detected prenatally by amniocentesis performed because of severe intrauterine growth retardation and malformations. Chromosome analysis from neonatal lymphocyte cultures revealed eXclusively the 45,X cell line. Double aneuploidy mosaicism trisomy 10/Monosomy X was confirmed from skin fibroblasts. The child died at the age of 7 weeks. This is the first reported case of double aneuploidy involving trisomy 10, and the first case of trisomy 10 without a normal cell line in a liveborn. Prenatal diagnosis of trisomy 10 in a liveborn has not been published so far. The case illustrates that in specific cases amniotic fluid cells may reflect the karyotype of the fetus better than blood.
Melanie Beaulieu Bergeron - One of the best experts on this subject based on the ideXlab platform.
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male pseudohermaphroditism and gonadal mosaicism in a 47 Xy 22 fetus
American Journal of Medical Genetics Part A, 2006Co-Authors: Melanie Beaulieu Bergeron, Danh Tranthanh, Jeanchristophe Fournet, Emmanuelle Lemyre, Nicole Lemieux, Dorothee Bourondal SoglioAbstract:Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological eXamination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous eXternal genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and Monosomy X, with 22%-50% of uterine cells having Monosomy X, while 85%-100% of right and 77%-96% of left testicular cells were XY. The distribution of seX chromosomes observed in these tissues could eXplain the seXual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in seXual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient.
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Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus.
American journal of medical genetics. Part A, 2006Co-Authors: Melanie Beaulieu Bergeron, Jeanchristophe Fournet, Emmanuelle Lemyre, Nicole Lemieux, Danh Tran-thanh, Dorothee Bourondal SoglioAbstract:Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological eXamination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous eXternal genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and Monosomy X, with 22%-50% of uterine cells having Monosomy X, while 85%-100% of right and 77%-96% of left testicular cells were XY. The distribution of seX chromosomes observed in these tissues could eXplain the seXual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in seXual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient.
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male pseudohermaphroditism and gonadal mosaicism in a 47 Xy 22 fetus
American Journal of Medical Genetics Part A, 2006Co-Authors: Melanie Beaulieu Bergeron, Danh Tranthanh, Jeanchristophe Fournet, Emmanuelle Lemyre, Nicole Lemieux, Dorothee Bourondal SoglioAbstract:Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological eXamination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous eXternal genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and Monosomy X, with 22%–50% of uterine cells having Monosomy X, while 85%–100% of right and 77%–96% of left testicular cells were XY. The distribution of seX chromosomes observed in these tissues could eXplain the seXual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in seXual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient. © 2006 Wiley-Liss, Inc.
Nicole Lemieux - One of the best experts on this subject based on the ideXlab platform.
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male pseudohermaphroditism and gonadal mosaicism in a 47 Xy 22 fetus
American Journal of Medical Genetics Part A, 2006Co-Authors: Melanie Beaulieu Bergeron, Danh Tranthanh, Jeanchristophe Fournet, Emmanuelle Lemyre, Nicole Lemieux, Dorothee Bourondal SoglioAbstract:Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological eXamination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous eXternal genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and Monosomy X, with 22%-50% of uterine cells having Monosomy X, while 85%-100% of right and 77%-96% of left testicular cells were XY. The distribution of seX chromosomes observed in these tissues could eXplain the seXual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in seXual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient.
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Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus.
American journal of medical genetics. Part A, 2006Co-Authors: Melanie Beaulieu Bergeron, Jeanchristophe Fournet, Emmanuelle Lemyre, Nicole Lemieux, Danh Tran-thanh, Dorothee Bourondal SoglioAbstract:Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological eXamination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous eXternal genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and Monosomy X, with 22%-50% of uterine cells having Monosomy X, while 85%-100% of right and 77%-96% of left testicular cells were XY. The distribution of seX chromosomes observed in these tissues could eXplain the seXual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in seXual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient.
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male pseudohermaphroditism and gonadal mosaicism in a 47 Xy 22 fetus
American Journal of Medical Genetics Part A, 2006Co-Authors: Melanie Beaulieu Bergeron, Danh Tranthanh, Jeanchristophe Fournet, Emmanuelle Lemyre, Nicole Lemieux, Dorothee Bourondal SoglioAbstract:Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological eXamination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous eXternal genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and Monosomy X, with 22%–50% of uterine cells having Monosomy X, while 85%–100% of right and 77%–96% of left testicular cells were XY. The distribution of seX chromosomes observed in these tissues could eXplain the seXual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in seXual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient. © 2006 Wiley-Liss, Inc.