The Experts below are selected from a list of 291 Experts worldwide ranked by ideXlab platform
Souichi Adachi - One of the best experts on this subject based on the ideXlab platform.
-
ring marker Chromosome derived from Chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7
International Journal of Hematology, 2010Co-Authors: Hisanori Fujino, Naoto Fujita, Kazuko Hamamoto, Satoshi Oobu, Makoto Kita, Atsushi Tanaka, Hiroshi Matsubara, Kenichiro Watanabe, Toshio Heike, Souichi AdachiAbstract:In some cases of childhood acute megakaryoblastic leukemia (AMKL), G-band analysis reveals supernumerary ring/marker Chromosomes along with monosomy 7. However, their origin and relevance are poorly understood. We experienced three patients with AMKL, one of whom had Down’s syndrome, whose blasts at the first visit exhibited both monosomy 7 and a ring/marker Chromosome. For one case, precise molecular-cytogenetic techniques revealed that the ring Chromosome was derived from a Chromosome 7. It was strongly suggested that the ring Chromosome was derived from a Chromosome 7 in another case. The ring or one of the 2 marker Chromosomes was derived from a Chromosome 7 in the other case. All patients responded well to initial induction therapy. While it is not clear whether the ring/marker Chromosome 7 affects the long-term prognosis of acute myeloid leukemia with monosomy 7, it may be of prognostic relevance to distinguish pure monosomy 7 from monosomy 7 with a ring/marker Chromosome 7. For this purpose, conventional G-banding could be complemented with additional techniques such as spectral karyotyping or fluorescence in situ hybridization, which characterize the aberration in more detail. These methods may be useful for determining the optimal treatment and for elucidating the etiology of AMKL itself.
-
Ring/marker Chromosome derived from Chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7
International Journal of Hematology, 2010Co-Authors: Hisanori Fujino, Naoto Fujita, Kazuko Hamamoto, Satoshi Oobu, Makoto Kita, Atsushi Tanaka, Hiroshi Matsubara, Kenichiro Watanabe, Toshio Heike, Souichi AdachiAbstract:In some cases of childhood acute megakaryoblastic leukemia (AMKL), G-band analysis reveals supernumerary ring/marker Chromosomes along with monosomy 7. However, their origin and relevance are poorly understood. We experienced three patients with AMKL, one of whom had Down’s syndrome, whose blasts at the first visit exhibited both monosomy 7 and a ring/marker Chromosome. For one case, precise molecular-cytogenetic techniques revealed that the ring Chromosome was derived from a Chromosome 7. It was strongly suggested that the ring Chromosome was derived from a Chromosome 7 in another case. The ring or one of the 2 marker Chromosomes was derived from a Chromosome 7 in the other case. All patients responded well to initial induction therapy. While it is not clear whether the ring/marker Chromosome 7 affects the long-term prognosis of acute myeloid leukemia with monosomy 7, it may be of prognostic relevance to distinguish pure monosomy 7 from monosomy 7 with a ring/marker Chromosome 7. For this purpose, conventional G-banding could be complemented with additional techniques such as spectral karyotyping or fluorescence in situ hybridization, which characterize the aberration in more detail. These methods may be useful for determining the optimal treatment and for elucidating the etiology of AMKL itself.
Michael A. Preece - One of the best experts on this subject based on the ideXlab platform.
-
Silver-Russell syndrome and ring Chromosome 7.
Journal of Medical Genetics, 2000Co-Authors: Emma L Wakeling, M Hitchins, David Monk, Philip Stanier, G. E. Moore, Michael A. PreeceAbstract:Editor—We read the recent paper by Miyoshi et al 1 with great interest. They report a child with Silver-Russell syndrome (SRS) and maternal uniparental disomy of Chromosome 7 (mUPD7), with 30% mosaicism for an additional ring Chromosome 7 of paternal origin. As the ring contained four CA repeat polymorphic markers which map to the region 7p13-q11 (D7S2552, D7S499, D7S494, and D7S2503), they concluded that imprinted genes within this region can be ruled out as candidates for SRS. While the data are interesting, we feel that they are inadequate to support this conclusion. Firstly, the genetic distance spanned by the four markers used to define the extent of biparental inheritance is small (2.26 cM between 64.81 and 67.07 cM). …
Hisanori Fujino - One of the best experts on this subject based on the ideXlab platform.
-
ring marker Chromosome derived from Chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7
International Journal of Hematology, 2010Co-Authors: Hisanori Fujino, Naoto Fujita, Kazuko Hamamoto, Satoshi Oobu, Makoto Kita, Atsushi Tanaka, Hiroshi Matsubara, Kenichiro Watanabe, Toshio Heike, Souichi AdachiAbstract:In some cases of childhood acute megakaryoblastic leukemia (AMKL), G-band analysis reveals supernumerary ring/marker Chromosomes along with monosomy 7. However, their origin and relevance are poorly understood. We experienced three patients with AMKL, one of whom had Down’s syndrome, whose blasts at the first visit exhibited both monosomy 7 and a ring/marker Chromosome. For one case, precise molecular-cytogenetic techniques revealed that the ring Chromosome was derived from a Chromosome 7. It was strongly suggested that the ring Chromosome was derived from a Chromosome 7 in another case. The ring or one of the 2 marker Chromosomes was derived from a Chromosome 7 in the other case. All patients responded well to initial induction therapy. While it is not clear whether the ring/marker Chromosome 7 affects the long-term prognosis of acute myeloid leukemia with monosomy 7, it may be of prognostic relevance to distinguish pure monosomy 7 from monosomy 7 with a ring/marker Chromosome 7. For this purpose, conventional G-banding could be complemented with additional techniques such as spectral karyotyping or fluorescence in situ hybridization, which characterize the aberration in more detail. These methods may be useful for determining the optimal treatment and for elucidating the etiology of AMKL itself.
-
Ring/marker Chromosome derived from Chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7
International Journal of Hematology, 2010Co-Authors: Hisanori Fujino, Naoto Fujita, Kazuko Hamamoto, Satoshi Oobu, Makoto Kita, Atsushi Tanaka, Hiroshi Matsubara, Kenichiro Watanabe, Toshio Heike, Souichi AdachiAbstract:In some cases of childhood acute megakaryoblastic leukemia (AMKL), G-band analysis reveals supernumerary ring/marker Chromosomes along with monosomy 7. However, their origin and relevance are poorly understood. We experienced three patients with AMKL, one of whom had Down’s syndrome, whose blasts at the first visit exhibited both monosomy 7 and a ring/marker Chromosome. For one case, precise molecular-cytogenetic techniques revealed that the ring Chromosome was derived from a Chromosome 7. It was strongly suggested that the ring Chromosome was derived from a Chromosome 7 in another case. The ring or one of the 2 marker Chromosomes was derived from a Chromosome 7 in the other case. All patients responded well to initial induction therapy. While it is not clear whether the ring/marker Chromosome 7 affects the long-term prognosis of acute myeloid leukemia with monosomy 7, it may be of prognostic relevance to distinguish pure monosomy 7 from monosomy 7 with a ring/marker Chromosome 7. For this purpose, conventional G-banding could be complemented with additional techniques such as spectral karyotyping or fluorescence in situ hybridization, which characterize the aberration in more detail. These methods may be useful for determining the optimal treatment and for elucidating the etiology of AMKL itself.
O Bartsch - One of the best experts on this subject based on the ideXlab platform.
-
Prenatal diagnosis of a recombinant Chromosome 7 resulting in trisomy 7q11.22 --> qter.
American Journal of Medical Genetics Part A, 2010Co-Authors: M Tchirikov, T. Haaf, A Merinsky, M Strohner, M Bonin, V Beyer, O BartschAbstract:Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 → qter, encompassing almost the entire long arm of Chromosome 7. Ultrasound, fetal and parental Chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 Chromosomes and a derivative Chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter → q11.2::p22 → qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant Chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing-over between the inverted Chromosome and the normal Chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant Chromosome 7 in the fetus and indicated a loss of 1.9 Mb at Chromosome 7pter → p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at Chromosome 7q11.22 → qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents. © 2010 Wiley-Liss, Inc.
-
Prenatal diagnosis of a recombinant Chromosome 7 resulting in trisomy 7q11.22 --> qter.
American journal of medical genetics. Part A, 2010Co-Authors: M Tchirikov, A Merinsky, M Strohner, M Bonin, V Beyer, T Haaf, O BartschAbstract:Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 --> qter, encompassing almost the entire long arm of Chromosome 7. Ultrasound, fetal and parental Chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 Chromosomes and a derivative Chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter --> q11.2::p22 --> qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant Chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing-over between the inverted Chromosome and the normal Chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant Chromosome 7 in the fetus and indicated a loss of 1.9 Mb at Chromosome 7pter --> p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at Chromosome 7q11.22 --> qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents.
Emma L Wakeling - One of the best experts on this subject based on the ideXlab platform.
-
Silver-Russell syndrome and ring Chromosome 7.
Journal of Medical Genetics, 2000Co-Authors: Emma L Wakeling, M Hitchins, David Monk, Philip Stanier, G. E. Moore, Michael A. PreeceAbstract:Editor—We read the recent paper by Miyoshi et al 1 with great interest. They report a child with Silver-Russell syndrome (SRS) and maternal uniparental disomy of Chromosome 7 (mUPD7), with 30% mosaicism for an additional ring Chromosome 7 of paternal origin. As the ring contained four CA repeat polymorphic markers which map to the region 7p13-q11 (D7S2552, D7S499, D7S494, and D7S2503), they concluded that imprinted genes within this region can be ruled out as candidates for SRS. While the data are interesting, we feel that they are inadequate to support this conclusion. Firstly, the genetic distance spanned by the four markers used to define the extent of biparental inheritance is small (2.26 cM between 64.81 and 67.07 cM). …