The Experts below are selected from a list of 321 Experts worldwide ranked by ideXlab platform
Joris Vermeesch - One of the best experts on this subject based on the ideXlab platform.
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A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.
American journal of medical genetics. Part A, 2012Co-Authors: Femke Hannes, Peter Hammond, Oliver Quarrell, Jean-pierre Fryns, Koenraad Devriendt, Joris VermeeschAbstract:It is generally accepted that the facial phenotype of Wolf-Hirschhorn syndrome is caused by deletions of either Wolf-Hirschhorn critical regions 1 or 2 (WHSCR 1-2). Here, we identify a 432 kb deletion located 600 kb proximal to both WHSCR1-2 in a patient with a WHS facial phenotype. Seven genes are underlying this deletion region including FAM193a, ADD1, NOP14, GRK4, MFSD10, SH3BP2, TNIP2. The clinical diagnosis of WHS facial phenotype was confirmed by 3D facial analysis using dense surface modeling. Our results suggest that the WHSCR1-2 flanking sequence contributes directly or indirectly to the severity of WHS. Sequencing the Wolf-Hirschhorn syndrome candidate 1 and 2 genes did not reveal any mutations. Long range position effects of the deletion that could influence gene expression within the WHSCR were excluded in EBV cell lines derived from patient lymphoblasts. We hypothesize that either (1) this locus harbors regulatory sequences which affect gene expression in the WHSCR1-2 in a defined temporal and spatial developmental window or (2) that this locus is additive to deletions of WHSCR1-2 increasing the phenotypic expression.
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fine grained facial phenotype genotype analysis in wolf Hirschhorn syndrome
European Journal of Human Genetics, 2012Co-Authors: Peter Hammond, Femke Hannes, Joris Vermeesch, Michael Suttie, Koen Devriendt, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steve Williams, Dominic J. McmullanAbstract:Wolf–Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf–Hirschhorn syndrome facial phenotype.
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Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome
European journal of human genetics : EJHG, 2011Co-Authors: Peter Hammond, Femke Hannes, Joris Vermeesch, Michael Suttie, Koen Devriendt, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steve Williams, Dominic J. McmullanAbstract:Wolf–Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf–Hirschhorn syndrome facial phenotype.
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duplication of the wolf Hirschhorn syndrome critical region causes neurodevelopmental delay
European Journal of Medical Genetics, 2010Co-Authors: Femke Hannes, Joris Vermeesch, Malgorzata Drozniewska, Olga HausAbstract:Abstract Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here we report a patient with an interstitial 560 kb duplication overlapping this critical locus. The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies. Interestingly, the duplication phenotype overlaps partially with the deletion phenotype. However, his facial phenotype differs from the typical WHS gestalt.
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wolf Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16 3 deletion telomeric to the whscr and whscr 2 regions
European Journal of Human Genetics, 2009Co-Authors: Hannelie M Engbers, Joris Vermeesch, Jasper J Van Der Smagt, Ruben Van T Slot, Ron Hochstenbach, Martin PootAbstract:We report on a patient with developmental delay and several facial characteristics reminiscent of Wolf–Hirschhorn syndrome, who carries a terminal 4p16.3 deletion of minimally 1.691 Mb and maximally 1.698 Mb. This deletion contains the FGFRL1 gene, but does not include the WHSC1 gene. Given its expression pattern and its involvement in bone and cartilage formation during embryonic development, the FGFRL1 gene represents a plausible candidate gene for part of the facial characteristics of Wolf–Hirshhorn syndrome in 4p16.3 deletion patients.
Kurt Hirschhorn - One of the best experts on this subject based on the ideXlab platform.
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A Conversation with Kurt and Rochelle Hirschhorn.
Annual review of genomics and human genetics, 2017Co-Authors: Kurt Hirschhorn, Rochelle Hirschhorn, Joel N. HirschhornAbstract:In this interview, Kurt and Rochelle Hirschhorn talk with their son, Joel, about their research and collaborations, the early years of medical genetics, the development of genetic counseling, the challenges of being a woman in science, and new challenges and directions for the study of human genetics.
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A short history of the initial discovery of the Wolf-Hirschhorn syndrome.
American journal of medical genetics. Part C Seminars in medical genetics, 2008Co-Authors: Kurt HirschhornAbstract:Deletion of the short arm of chromosome 4 (4p-) was first described in 1961 [Hirschhorn and Cooper, 1961], and the second case of 4p- was published in 1965 [Hirschhorn et al., 1965]. This short history describes the original case and the sequence of events leading to the publications.
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A short history of the initial discovery of the Wolf-Hirschhorn syndrome.
American Journal of Medical Genetics Part C-seminars in Medical Genetics, 2008Co-Authors: Kurt HirschhornAbstract:Deletion of the short arm of chromosome 4 (4p-) was first described in 1961 [Hirschhorn and Cooper, 1961], and the second case of 4p- was published in 1965 [Hirschhorn et al., 1965]. This short history describes the original case and the sequence of events leading to the publications. © 2008 Wiley-Liss, Inc.
Thomas Liehr - One of the best experts on this subject based on the ideXlab platform.
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ring chromosome 4 and wolf Hirschhorn syndrome whs in a child with multiple anomalies
American Journal of Medical Genetics Part A, 2006Co-Authors: Sevim Balci, Joris Vermeesch, O Engiz, Dilek Aktas, Ibrahim Vargel, M S Beksac, Kristin Mrasek, Thomas LiehrAbstract:We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf–Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)(::p16.3 q34.3 ∼ 35.1::) was found in all metaphases. Subtelomeric 4p region, subtelomeric 4q region, as well as, Wolf–Hirschhorn critical region were deleted in ring chromosome 4. Genomic microarray analysis was also performed to delineate the size of deletion. Cranial magnetic resonance imaging (MRI) showed hypoplastic corpus callosum, delayed myelinization, and frontal and occipital lobe atrophies. Both maternal and paternal chromosomal analyses were normal. We compare the phenotypic appearance of our patient with the previously reported 16 cases of ring chromosome 4 in the medical literature. © 2006 Wiley-Liss, Inc.
Peter Hammond - One of the best experts on this subject based on the ideXlab platform.
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A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.
American journal of medical genetics. Part A, 2012Co-Authors: Femke Hannes, Peter Hammond, Oliver Quarrell, Jean-pierre Fryns, Koenraad Devriendt, Joris VermeeschAbstract:It is generally accepted that the facial phenotype of Wolf-Hirschhorn syndrome is caused by deletions of either Wolf-Hirschhorn critical regions 1 or 2 (WHSCR 1-2). Here, we identify a 432 kb deletion located 600 kb proximal to both WHSCR1-2 in a patient with a WHS facial phenotype. Seven genes are underlying this deletion region including FAM193a, ADD1, NOP14, GRK4, MFSD10, SH3BP2, TNIP2. The clinical diagnosis of WHS facial phenotype was confirmed by 3D facial analysis using dense surface modeling. Our results suggest that the WHSCR1-2 flanking sequence contributes directly or indirectly to the severity of WHS. Sequencing the Wolf-Hirschhorn syndrome candidate 1 and 2 genes did not reveal any mutations. Long range position effects of the deletion that could influence gene expression within the WHSCR were excluded in EBV cell lines derived from patient lymphoblasts. We hypothesize that either (1) this locus harbors regulatory sequences which affect gene expression in the WHSCR1-2 in a defined temporal and spatial developmental window or (2) that this locus is additive to deletions of WHSCR1-2 increasing the phenotypic expression.
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fine grained facial phenotype genotype analysis in wolf Hirschhorn syndrome
European Journal of Human Genetics, 2012Co-Authors: Peter Hammond, Femke Hannes, Joris Vermeesch, Michael Suttie, Koen Devriendt, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steve Williams, Dominic J. McmullanAbstract:Wolf–Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf–Hirschhorn syndrome facial phenotype.
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Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome
European journal of human genetics : EJHG, 2011Co-Authors: Peter Hammond, Femke Hannes, Joris Vermeesch, Michael Suttie, Koen Devriendt, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steve Williams, Dominic J. McmullanAbstract:Wolf–Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf–Hirschhorn syndrome facial phenotype.
Femke Hannes - One of the best experts on this subject based on the ideXlab platform.
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A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.
American journal of medical genetics. Part A, 2012Co-Authors: Femke Hannes, Peter Hammond, Oliver Quarrell, Jean-pierre Fryns, Koenraad Devriendt, Joris VermeeschAbstract:It is generally accepted that the facial phenotype of Wolf-Hirschhorn syndrome is caused by deletions of either Wolf-Hirschhorn critical regions 1 or 2 (WHSCR 1-2). Here, we identify a 432 kb deletion located 600 kb proximal to both WHSCR1-2 in a patient with a WHS facial phenotype. Seven genes are underlying this deletion region including FAM193a, ADD1, NOP14, GRK4, MFSD10, SH3BP2, TNIP2. The clinical diagnosis of WHS facial phenotype was confirmed by 3D facial analysis using dense surface modeling. Our results suggest that the WHSCR1-2 flanking sequence contributes directly or indirectly to the severity of WHS. Sequencing the Wolf-Hirschhorn syndrome candidate 1 and 2 genes did not reveal any mutations. Long range position effects of the deletion that could influence gene expression within the WHSCR were excluded in EBV cell lines derived from patient lymphoblasts. We hypothesize that either (1) this locus harbors regulatory sequences which affect gene expression in the WHSCR1-2 in a defined temporal and spatial developmental window or (2) that this locus is additive to deletions of WHSCR1-2 increasing the phenotypic expression.
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fine grained facial phenotype genotype analysis in wolf Hirschhorn syndrome
European Journal of Human Genetics, 2012Co-Authors: Peter Hammond, Femke Hannes, Joris Vermeesch, Michael Suttie, Koen Devriendt, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steve Williams, Dominic J. McmullanAbstract:Wolf–Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf–Hirschhorn syndrome facial phenotype.
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Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome
European journal of human genetics : EJHG, 2011Co-Authors: Peter Hammond, Femke Hannes, Joris Vermeesch, Michael Suttie, Koen Devriendt, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steve Williams, Dominic J. McmullanAbstract:Wolf–Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf–Hirschhorn syndrome facial phenotype.
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duplication of the wolf Hirschhorn syndrome critical region causes neurodevelopmental delay
European Journal of Medical Genetics, 2010Co-Authors: Femke Hannes, Joris Vermeesch, Malgorzata Drozniewska, Olga HausAbstract:Abstract Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here we report a patient with an interstitial 560 kb duplication overlapping this critical locus. The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies. Interestingly, the duplication phenotype overlaps partially with the deletion phenotype. However, his facial phenotype differs from the typical WHS gestalt.