The Experts below are selected from a list of 56904 Experts worldwide ranked by ideXlab platform
Angelina Cartin - One of the best experts on this subject based on the ideXlab platform.
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Isolated multiple bilateral echogenic papillary muscles: A unique sonographic feature of trisomy 13.
Obstetrics and gynecology, 2002Co-Authors: Joseph R Wax, Michael G Pinette, Jacquelyn Blackstone, Angelina CartinAbstract:Echogenic papillary muscles are noted in 30% of fetuses with trisomy 13. All reported fetuses with trisomy 13 and echogenic papillary muscles have exhibited additional abnormal sonographic findings. A 21.7-week fetus demonstrated three papillary echogenicities in each cardiac ventricle during ultrasound examination. Chromosomal analysis of amniocytes showed the Karyotype 47,XX,+13. Multiple bilateral papillary muscles may provide the only sonographic sign of fetal trisomy 13.
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Isolated multiple bilateral echogenic papillary muscles: A unique sonographic feature of trisomy 13.
Obstetrics & Gynecology, 2002Co-Authors: Joseph R Wax, Michael G Pinette, Jacquelyn Blackstone, Angelina CartinAbstract:Abstract BACKGROUND: Echogenic papillary muscles are noted in 30% of fetuses with trisomy 13. All reported fetuses with trisomy 13 and echogenic papillary muscles have exhibited additional abnormal sonographic findings. CASE: A 21.7-week fetus demonstrated three papillary echogenicities in each cardiac ventricle during ultrasound examination. Chromosomal analysis of amniocytes showed the Karyotype 47,XX,+13. CONCLUSION: Multiple bilateral papillary muscles may provide the only sonographic sign of fetal trisomy 13.
Nils Mandahl - One of the best experts on this subject based on the ideXlab platform.
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Four copies of 8p in a mentally retarded boy with the mosaic Karyotype 47,XY, +i(8p)/46,XY
Clinical genetics, 2008Co-Authors: Ulf Kristoffersson, Jan Lagergren, Sverre Heim, Nils MandahlAbstract:A 5-year-old boy with slow psychomotor development, slight widening of the posterior part of the brain ventricles, and anomalies of vertebrae and ribs is described. Cytogenetic investigation revealed the mosaic Karyotype 47,XY, + i(8p)/46,XY, i.e., a triplication of 8p. This abnormality has not been reported before.
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four copies of 8p in a mentally retarded boy with the mosaic Karyotype 47 xy i 8p 46 xy
Clinical Genetics, 2008Co-Authors: Ulf Kristoffersson, Jan Lagergren, Sverre Heim, Nils MandahlAbstract:A 5-year-old boy with slow psychomotor development, slight widening of the posterior part of the brain ventricles, and anomalies of vertebrae and ribs is described. Cytogenetic investigation revealed the mosaic Karyotype 47,XY, + i(8p)/46,XY, i.e., a triplication of 8p. This abnormality has not been reported before.
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Trisomy 2 as the sole chromosomal abnormality in a hepatoblastoma.
Genes chromosomes & cancer, 1992Co-Authors: Georgia Bardi, Sverre Heim, Nils Mandahl, Felix Mitelman, Bertil Johansson, Nikos Pandis, Albert N. Bekassy, Inga HägerstrandAbstract:Short-term cultures of a fine-needle aspirate from a hepatoblastoma were analyzed cytogenetically. Trisomy 2 was found as the sole abnormality, yielding the Karyotype 47,XY, + 2/46,XY. Because trisomy for all or part of chromosome 2 has been described, although together with other aberrations, in seven of the 11 hepatoblastomas hitherto reported, the finding of + 2 as the only anomaly in the present case strongly indicates that additional chromosome 2 material is of pathogenetic significance in this tumor type.
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New chromosomal rearrangement, t(12;22)(p13;q12), in acute nonlymphocytic leukemia.
Cancer genetics and cytogenetics, 1991Co-Authors: David F. Callen, Sverre Heim, Nils Mandahl, Yvonne Hull, I. Toogood, Thoas Fioretos, Felix MitelmanAbstract:The Karyotype 47,XX, + 8,t(12;22)(p13;q12) was found at diagnosis in two patients with acute nonlymphocytic leukemia (ANLL). The bone marrow morphology of both patients corresponded to the M4 subtype of the French-American-British (FAB) classification. The translocation t(12;22) has not previously been reported as the sole structural aberration in ANLL.
Inga Hägerstrand - One of the best experts on this subject based on the ideXlab platform.
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Hypereosinophilic syndrome in a child mosaic for a congenital triplication of the short arm of chromosome 8.
British journal of haematology, 1997Co-Authors: Arne Egesten, Ulf Kristoffersson, Inga Hägerstrand, Stanislaw GarwiczAbstract:An 11-year-old boy with mental retardation, malformations, and the mosaic Karyotype 47,XY,+i(8p)/46,XY presented with fever, headache and petechiae. Peripheral blood WBC was 190 x 10(9)/l; and contained > 90% mature eosinophils. Cytogenetic analysis of the eosinophils revealed no aberrations except the constitutional Karyotype. The patient was diagnosed as having a hypereosinophilic syndrome. Shortly after initiation of therapy he died from extensive mural thrombi of the heart and thrombi of several other organs. This is the first case of congenital triplication of the short arm of chromosome 8 associated with hypereosinophilic syndrome, suggesting involvement of genes on chromosome 8p in the regulation of eosinopoiesis.
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Trisomy 2 as the sole chromosomal abnormality in a hepatoblastoma.
Genes chromosomes & cancer, 1992Co-Authors: Georgia Bardi, Sverre Heim, Nils Mandahl, Felix Mitelman, Bertil Johansson, Nikos Pandis, Albert N. Bekassy, Inga HägerstrandAbstract:Short-term cultures of a fine-needle aspirate from a hepatoblastoma were analyzed cytogenetically. Trisomy 2 was found as the sole abnormality, yielding the Karyotype 47,XY, + 2/46,XY. Because trisomy for all or part of chromosome 2 has been described, although together with other aberrations, in seven of the 11 hepatoblastomas hitherto reported, the finding of + 2 as the only anomaly in the present case strongly indicates that additional chromosome 2 material is of pathogenetic significance in this tumor type.
Sverre Heim - One of the best experts on this subject based on the ideXlab platform.
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Four copies of 8p in a mentally retarded boy with the mosaic Karyotype 47,XY, +i(8p)/46,XY
Clinical genetics, 2008Co-Authors: Ulf Kristoffersson, Jan Lagergren, Sverre Heim, Nils MandahlAbstract:A 5-year-old boy with slow psychomotor development, slight widening of the posterior part of the brain ventricles, and anomalies of vertebrae and ribs is described. Cytogenetic investigation revealed the mosaic Karyotype 47,XY, + i(8p)/46,XY, i.e., a triplication of 8p. This abnormality has not been reported before.
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four copies of 8p in a mentally retarded boy with the mosaic Karyotype 47 xy i 8p 46 xy
Clinical Genetics, 2008Co-Authors: Ulf Kristoffersson, Jan Lagergren, Sverre Heim, Nils MandahlAbstract:A 5-year-old boy with slow psychomotor development, slight widening of the posterior part of the brain ventricles, and anomalies of vertebrae and ribs is described. Cytogenetic investigation revealed the mosaic Karyotype 47,XY, + i(8p)/46,XY, i.e., a triplication of 8p. This abnormality has not been reported before.
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Trisomy 2 as the sole chromosomal abnormality in a hepatoblastoma.
Genes chromosomes & cancer, 1992Co-Authors: Georgia Bardi, Sverre Heim, Nils Mandahl, Felix Mitelman, Bertil Johansson, Nikos Pandis, Albert N. Bekassy, Inga HägerstrandAbstract:Short-term cultures of a fine-needle aspirate from a hepatoblastoma were analyzed cytogenetically. Trisomy 2 was found as the sole abnormality, yielding the Karyotype 47,XY, + 2/46,XY. Because trisomy for all or part of chromosome 2 has been described, although together with other aberrations, in seven of the 11 hepatoblastomas hitherto reported, the finding of + 2 as the only anomaly in the present case strongly indicates that additional chromosome 2 material is of pathogenetic significance in this tumor type.
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New chromosomal rearrangement, t(12;22)(p13;q12), in acute nonlymphocytic leukemia.
Cancer genetics and cytogenetics, 1991Co-Authors: David F. Callen, Sverre Heim, Nils Mandahl, Yvonne Hull, I. Toogood, Thoas Fioretos, Felix MitelmanAbstract:The Karyotype 47,XX, + 8,t(12;22)(p13;q12) was found at diagnosis in two patients with acute nonlymphocytic leukemia (ANLL). The bone marrow morphology of both patients corresponded to the M4 subtype of the French-American-British (FAB) classification. The translocation t(12;22) has not previously been reported as the sole structural aberration in ANLL.
Joseph R Wax - One of the best experts on this subject based on the ideXlab platform.
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Isolated multiple bilateral echogenic papillary muscles: A unique sonographic feature of trisomy 13.
Obstetrics and gynecology, 2002Co-Authors: Joseph R Wax, Michael G Pinette, Jacquelyn Blackstone, Angelina CartinAbstract:Echogenic papillary muscles are noted in 30% of fetuses with trisomy 13. All reported fetuses with trisomy 13 and echogenic papillary muscles have exhibited additional abnormal sonographic findings. A 21.7-week fetus demonstrated three papillary echogenicities in each cardiac ventricle during ultrasound examination. Chromosomal analysis of amniocytes showed the Karyotype 47,XX,+13. Multiple bilateral papillary muscles may provide the only sonographic sign of fetal trisomy 13.
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Isolated multiple bilateral echogenic papillary muscles: A unique sonographic feature of trisomy 13.
Obstetrics & Gynecology, 2002Co-Authors: Joseph R Wax, Michael G Pinette, Jacquelyn Blackstone, Angelina CartinAbstract:Abstract BACKGROUND: Echogenic papillary muscles are noted in 30% of fetuses with trisomy 13. All reported fetuses with trisomy 13 and echogenic papillary muscles have exhibited additional abnormal sonographic findings. CASE: A 21.7-week fetus demonstrated three papillary echogenicities in each cardiac ventricle during ultrasound examination. Chromosomal analysis of amniocytes showed the Karyotype 47,XX,+13. CONCLUSION: Multiple bilateral papillary muscles may provide the only sonographic sign of fetal trisomy 13.