The Experts below are selected from a list of 1977 Experts worldwide ranked by ideXlab platform
Michael J Gambello - One of the best experts on this subject based on the ideXlab platform.
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a patient with isoChromosome 18q radial thumb aplasia thrombocytopenia and an unbalanced 10 18 Chromosome translocation
American Journal of Medical Genetics Part A, 2005Co-Authors: Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T Noblin, Carlos A. Bacino, Michael J GambelloAbstract:We report on the clinical and cytogenetic findings in a newborn with a de novo isoChromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between Chromosome 18p telomere and Chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isoChromosome cases may be more common than appreciated. © 2005 Wiley-Liss, Inc.
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A patient with isoChromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 Chromosome translocation.
American journal of medical genetics. Part A, 2005Co-Authors: Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T Noblin, Carlos A. Bacino, Michael J GambelloAbstract:We report on the clinical and cytogenetic findings in a newborn with a de novo isoChromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between Chromosome 18p telomere and Chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isoChromosome cases may be more common than appreciated.
P Debeer - One of the best experts on this subject based on the ideXlab platform.
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Distal limb deficiencies, micrognathia syndrome (OMIM 246560) and syndromic forms of split hand foot malformation (SHFM) are caused by Chromosome 10q genomic rearrangements
Journal of Medical Genetics, 2010Co-Authors: B I Dimitrov, Koen Devriendt, Jean-pierre Fryns, T De Ravel, J Van Driessche, C De Die-smulders, A Toutain, J R Vermeesch, P DebeerAbstract:The 10q24 chromosomal region has previously been implicated in Split Hand Foot Malformation (SHFM). SHFM3 was mapped to a large interval on Chromosome 10q. The corresponding Dactylaplasia mouse model was linked to the syntenic locus on Chromosome 19. It was shown that the two existing Dac alleles result from MusD-insertions upstream of or within Dactylin (Fbxw4). However, all efforts to find the underlying cause for the human SHFM3 have failed on the anaysis of all the genes within the linkage region. Intriguingly a submicroscopic duplication within the critical locus on Chromosome 10q24 was associated with the phenotype.
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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by Chromosome 10q genomic rearrangements
Journal of medical genetics, 2009Co-Authors: Boyan Dimitrov, Koen Devriendt, Jean-pierre Fryns, T De Ravel, J Van Driessche, C De Die-smulders, A Toutain, J R Vermeesch, P DebeerAbstract:Background: The 10q24 chromosomal region has previously been implicated in Split Hand Foot Malformation (SHFM). SHFM3 was mapped to a large interval on Chromosome 10q. The corresponding Dactylaplasia mouse model was linked to the syntenic locus on Chromosome 19. It was shown that the two existing Dac alleles result from MusD-insertions upstream of or within Dactylin (Fbxw4). However, all efforts to find the underlying cause for the human SHFM3 have failed on the anaysis of all the genes within the linkage region. Intriguingly a submicroscopic duplication within the critical locus on Chromosome 10q24 was associated with the phenotype. Methods and Results: As a part of screening for genomic rearrangements in cases with unexplained syndromic limb defects, a cohort of patients was analyzed by array CGH (Comperative Genomic Hybridization). A 10q24 microduplication was detected in 6 individuals with distal limb deficiencies associated with micrognathia, hearing problems and renal hypoplasia. In addition, in a family with two affected siblings, a somatic/gonadal mosaicism for the microduplication was detected in the apparently healthy mother. Using a high resolution oligoarray further delineation of the duplication size was performed. Conclusions: The detected 10q24 genomic imbalance in our syndromic patients has a similar size to the duplication in the previously reported individuals with an isolated form of SHFM, thus extending the clinical spectrum of SHFM3. These findings clearly demonstrate the importance of array CGH in the detection of the etiology of complex, clinically heterogeneous entities.
Jean-pierre Fryns - One of the best experts on this subject based on the ideXlab platform.
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Distal limb deficiencies, micrognathia syndrome (OMIM 246560) and syndromic forms of split hand foot malformation (SHFM) are caused by Chromosome 10q genomic rearrangements
Journal of Medical Genetics, 2010Co-Authors: B I Dimitrov, Koen Devriendt, Jean-pierre Fryns, T De Ravel, J Van Driessche, C De Die-smulders, A Toutain, J R Vermeesch, P DebeerAbstract:The 10q24 chromosomal region has previously been implicated in Split Hand Foot Malformation (SHFM). SHFM3 was mapped to a large interval on Chromosome 10q. The corresponding Dactylaplasia mouse model was linked to the syntenic locus on Chromosome 19. It was shown that the two existing Dac alleles result from MusD-insertions upstream of or within Dactylin (Fbxw4). However, all efforts to find the underlying cause for the human SHFM3 have failed on the anaysis of all the genes within the linkage region. Intriguingly a submicroscopic duplication within the critical locus on Chromosome 10q24 was associated with the phenotype.
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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by Chromosome 10q genomic rearrangements
Journal of medical genetics, 2009Co-Authors: Boyan Dimitrov, Koen Devriendt, Jean-pierre Fryns, T De Ravel, J Van Driessche, C De Die-smulders, A Toutain, J R Vermeesch, P DebeerAbstract:Background: The 10q24 chromosomal region has previously been implicated in Split Hand Foot Malformation (SHFM). SHFM3 was mapped to a large interval on Chromosome 10q. The corresponding Dactylaplasia mouse model was linked to the syntenic locus on Chromosome 19. It was shown that the two existing Dac alleles result from MusD-insertions upstream of or within Dactylin (Fbxw4). However, all efforts to find the underlying cause for the human SHFM3 have failed on the anaysis of all the genes within the linkage region. Intriguingly a submicroscopic duplication within the critical locus on Chromosome 10q24 was associated with the phenotype. Methods and Results: As a part of screening for genomic rearrangements in cases with unexplained syndromic limb defects, a cohort of patients was analyzed by array CGH (Comperative Genomic Hybridization). A 10q24 microduplication was detected in 6 individuals with distal limb deficiencies associated with micrognathia, hearing problems and renal hypoplasia. In addition, in a family with two affected siblings, a somatic/gonadal mosaicism for the microduplication was detected in the apparently healthy mother. Using a high resolution oligoarray further delineation of the duplication size was performed. Conclusions: The detected 10q24 genomic imbalance in our syndromic patients has a similar size to the duplication in the previously reported individuals with an isolated form of SHFM, thus extending the clinical spectrum of SHFM3. These findings clearly demonstrate the importance of array CGH in the detection of the etiology of complex, clinically heterogeneous entities.
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Triplication of distal Chromosome 10q
Journal of medical genetics, 1999Co-Authors: Koen Devriendt, Gert Matthijs, Maureen Holvoet, Eric F.p.m. Schoenmakers, Jean-pierre FrynsAbstract:We describe a patient with a de novo chromosomal aberration with karyotype 46,XY,10q+, presenting clinical features of partial duplication of distal Chromosome 10q. Further studies using microsatellites and FISH showed a triplication of distal Chromosome 10q. The rearrangement involved both maternal homologues and the middle chromosomal 10q fragment of the triplication was inverted, similar to previously reported chromosomal triplications. Chromosomal triplications may be more frequent than assumed and may share a common molecular mechanism.
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Terminal deletion of Chromosome 10q26: Delineation of two clinical phenotypes
Genetic counseling (Geneva Switzerland), 1998Co-Authors: Paul Petit, Koen Devriendt, Myriam Azou, Marc Gewillig, Jean-pierre FrynsAbstract:We present genotype-phenotype correlations in two patients with distal 10q deletion. A patient with a small terminal deletion presented mild mental retardation and behavioral difficulties with hyperactivity, whereas the patient with a larger deletion, had multiple congenital anomalies and moderate mental retardation. Our observation confirms the previous suggestion that larger deletions of distal Chromosome 10q are associated with a more severe clinical presentation, whereas hyperactive behavior may be a specific feature of small terminal deletions of Chromosome 10q26.
Koen Devriendt - One of the best experts on this subject based on the ideXlab platform.
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Distal limb deficiencies, micrognathia syndrome (OMIM 246560) and syndromic forms of split hand foot malformation (SHFM) are caused by Chromosome 10q genomic rearrangements
Journal of Medical Genetics, 2010Co-Authors: B I Dimitrov, Koen Devriendt, Jean-pierre Fryns, T De Ravel, J Van Driessche, C De Die-smulders, A Toutain, J R Vermeesch, P DebeerAbstract:The 10q24 chromosomal region has previously been implicated in Split Hand Foot Malformation (SHFM). SHFM3 was mapped to a large interval on Chromosome 10q. The corresponding Dactylaplasia mouse model was linked to the syntenic locus on Chromosome 19. It was shown that the two existing Dac alleles result from MusD-insertions upstream of or within Dactylin (Fbxw4). However, all efforts to find the underlying cause for the human SHFM3 have failed on the anaysis of all the genes within the linkage region. Intriguingly a submicroscopic duplication within the critical locus on Chromosome 10q24 was associated with the phenotype.
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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by Chromosome 10q genomic rearrangements
Journal of medical genetics, 2009Co-Authors: Boyan Dimitrov, Koen Devriendt, Jean-pierre Fryns, T De Ravel, J Van Driessche, C De Die-smulders, A Toutain, J R Vermeesch, P DebeerAbstract:Background: The 10q24 chromosomal region has previously been implicated in Split Hand Foot Malformation (SHFM). SHFM3 was mapped to a large interval on Chromosome 10q. The corresponding Dactylaplasia mouse model was linked to the syntenic locus on Chromosome 19. It was shown that the two existing Dac alleles result from MusD-insertions upstream of or within Dactylin (Fbxw4). However, all efforts to find the underlying cause for the human SHFM3 have failed on the anaysis of all the genes within the linkage region. Intriguingly a submicroscopic duplication within the critical locus on Chromosome 10q24 was associated with the phenotype. Methods and Results: As a part of screening for genomic rearrangements in cases with unexplained syndromic limb defects, a cohort of patients was analyzed by array CGH (Comperative Genomic Hybridization). A 10q24 microduplication was detected in 6 individuals with distal limb deficiencies associated with micrognathia, hearing problems and renal hypoplasia. In addition, in a family with two affected siblings, a somatic/gonadal mosaicism for the microduplication was detected in the apparently healthy mother. Using a high resolution oligoarray further delineation of the duplication size was performed. Conclusions: The detected 10q24 genomic imbalance in our syndromic patients has a similar size to the duplication in the previously reported individuals with an isolated form of SHFM, thus extending the clinical spectrum of SHFM3. These findings clearly demonstrate the importance of array CGH in the detection of the etiology of complex, clinically heterogeneous entities.
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Triplication of distal Chromosome 10q
Journal of medical genetics, 1999Co-Authors: Koen Devriendt, Gert Matthijs, Maureen Holvoet, Eric F.p.m. Schoenmakers, Jean-pierre FrynsAbstract:We describe a patient with a de novo chromosomal aberration with karyotype 46,XY,10q+, presenting clinical features of partial duplication of distal Chromosome 10q. Further studies using microsatellites and FISH showed a triplication of distal Chromosome 10q. The rearrangement involved both maternal homologues and the middle chromosomal 10q fragment of the triplication was inverted, similar to previously reported chromosomal triplications. Chromosomal triplications may be more frequent than assumed and may share a common molecular mechanism.
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Terminal deletion of Chromosome 10q26: Delineation of two clinical phenotypes
Genetic counseling (Geneva Switzerland), 1998Co-Authors: Paul Petit, Koen Devriendt, Myriam Azou, Marc Gewillig, Jean-pierre FrynsAbstract:We present genotype-phenotype correlations in two patients with distal 10q deletion. A patient with a small terminal deletion presented mild mental retardation and behavioral difficulties with hyperactivity, whereas the patient with a larger deletion, had multiple congenital anomalies and moderate mental retardation. Our observation confirms the previous suggestion that larger deletions of distal Chromosome 10q are associated with a more severe clinical presentation, whereas hyperactive behavior may be a specific feature of small terminal deletions of Chromosome 10q26.
Trilochan Sahoo - One of the best experts on this subject based on the ideXlab platform.
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a patient with isoChromosome 18q radial thumb aplasia thrombocytopenia and an unbalanced 10 18 Chromosome translocation
American Journal of Medical Genetics Part A, 2005Co-Authors: Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T Noblin, Carlos A. Bacino, Michael J GambelloAbstract:We report on the clinical and cytogenetic findings in a newborn with a de novo isoChromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between Chromosome 18p telomere and Chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isoChromosome cases may be more common than appreciated. © 2005 Wiley-Liss, Inc.
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A patient with isoChromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 Chromosome translocation.
American journal of medical genetics. Part A, 2005Co-Authors: Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T Noblin, Carlos A. Bacino, Michael J GambelloAbstract:We report on the clinical and cytogenetic findings in a newborn with a de novo isoChromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between Chromosome 18p telomere and Chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isoChromosome cases may be more common than appreciated.