The Experts below are selected from a list of 210 Experts worldwide ranked by ideXlab platform
Gerald L Feldman - One of the best experts on this subject based on the ideXlab platform.
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child with velocardiofacial syndrome and del 4 q34 2 another critical region associated with a velocardiofacial syndrome like phenotype
American Journal of Medical Genetics, 1999Co-Authors: Chun-hui Tsai, Daniel L Van Dyke, Gerald L FeldmanAbstract:We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, Hypernasal Speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified. Am. J. Med. Genet. 82:336–339, 1999. © 1999 Wiley-Liss, Inc.
Devriendt Koenraad - One of the best experts on this subject based on the ideXlab platform.
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3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: intrafamilial phenotypic variability
Elsevier, 2015Co-Authors: Vergaelen Elfi, Swillen Ann, Van Esch Hilde, Claes Stephan, Van Goethem Gert, Devriendt KoenraadAbstract:In this case report, we present a paternal transmission of a classic 3 Mb 22q11.2 deletion syndrome (22q11.2 DS) in a 3 generation family. In this family a young girl, her father, her uncle and her grandfather were diagnosed with this disorder. All carriers showed phenotypic expression, there were no unaffected siblings in the second or third generation. Presenting symptoms in the patient in first generation (grandfather) were psoriatic arthritis, thrombocytopenia and a right aortic arch. There was no intellectual disability. The second generation uncle was known with a severe intellectual disability, mild facial characteristics, a septal defect and a clubfoot, whereas the second generation father had a tetralogy of Fallot, no intellectual disability and minimal facial characteristics. The third generation daughter had a moderate intellectual disability, Hypernasal Speech, triphalangeal thumb, severe Speech and language development delay, pronounced facial characteristics and a diagnosis of ADHD. It was notable that the expression in the two brothers of the second generation gives two very different clinical phenotypes with a severe intellectual disability in the oldest brother. This report describes a pronounced clinical variability in a 3 generation familial 22q11.2 deletion with paternal transmission. We can assume that several mechanisms play an important role in the heterogeneity and part of the answer should be found in the genetic background underlying the 22q11.2 deletion. In addition in this family the neuropsychiatric phenotype and intellectual disability seem to be associated with a lower level of social and occupational functioning while a congenital heart disease does not. This clinical report illustrates that a detailed description of these patients can be very informative and still increase the knowledge on this heterogonous syndrome. For the clinicians working with these patients it emphasizes the need for a multidisciplinary approach that takes into account the individual needs.status: publishe
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3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: intrafamilial phenotypic variability
'Elsevier BV', 2015Co-Authors: Vergaelen Elfi, Swillen Ann, Van Esch Hilde, Claes Stephan, Van Goethem Gert, Devriendt KoenraadAbstract:In this case report, we present a paternal transmission of a classic 3 Mb 22q11.2 deletion syndrome (22q11.2 DS) in a 3 generation family. In this family a young girl, her father, her uncle and her grandfather were diagnosed with this disorder. All carriers showed phenotypic expression, there were no unaffected siblings in the second or third generation. Presenting symptoms in the patient in first generation (grandfather) were psoriatic arthritis, thrombocytopenia and a right aortic arch. There was no intellectual disability. The second generation uncle was known with a severe intellectual disability, mild facial characteristics, a septal defect and a clubfoot, whereas the second generation father had a tetralogy of Fallot, no intellectual disability and minimal facial characteristics. The third generation daughter had a moderate intellectual disability, Hypernasal Speech, triphalangeal thumb, severe Speech and language development delay, pronounced facial characteristics and a diagnosis of ADHD. It was notable that the expression in the two brothers of the second generation gives two very different clinical phenotypes with a severe intellectual disability in the oldest brother. This report describes a pronounced clinical variability in a 3 generation familial 22q11.2 deletion with paternal transmission. We can assume that several mechanisms play an important role in the heterogeneity and part of the answer should be found in the genetic background underlying the 22q11.2 deletion. In addition in this family the neuropsychiatric phenotype and intellectual disability seem to be associated with a lower level of social and occupational functioning while a congenital heart disease does not. This clinical report illustrates that a detailed description of these patients can be very informative and still increase the knowledge on this heterogonous syndrome. For the clinicians working with these patients it emphasizes the need for a multidisciplinary approach that takes into account the individual needs.publisher: Elsevier articletitle: 3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability journaltitle: European Journal of Medical Genetics articlelink: http://dx.doi.org/10.1016/j.ejmg.2015.01.008 content_type: article copyright: Copyright © 2015 Elsevier Masson SAS. All rights reserved.status: publishe
I Teshima - One of the best experts on this subject based on the ideXlab platform.
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prevalence of microdeletion 22q11 in patients with Hypernasal Speech due to velopharyngeal insufficiency expanded phenotype and clinical comparison to nondeletion
American Journal of Human Genetics, 1994Co-Authors: J Siegelbartelt, Cheryl Cytrynbaum, I TeshimaAbstract:Microdeletion 22q11.2 has been reported as a frequent ethiology of both velocardiofacial (VCF) and DiGeorge syndromes. We have studied the prevalence of microdeletion 22q11 in a group of patients ascertained through a Speech and Language clinic presenting with (1) velopharyngeal insufficiency (VPI) and (2) difficultly in school. Growth parameters were measured, and facies were scored for features of VCF. Microdeletions were detected at locus D22S75 by FISH with probe N25 (Oncor), and at 22q11.2 with high resolution banding analysis (HRB). One child with typical VCF facies was considered to have a deletion at 22q11 with HRB, but is not deleted with N25, indicating that N25 may not detect all deletion patients. An additional 8/30 children tested to date were deleted with the N25 probe. Heart defects were present in only 2/8 deletion patients: VSD/ASD and PS/AS. One N25 deletion patient was atypica; he has a tall, lanky habitus (height = 90%), and facies not characteristic of CVF. As expected, there is a trend to lower head size, smaller ear size, and more typical facies in deletion patients; however, four of the nondeletion patients also had a clinical diagnosis of VCF. Medially displaced carotid arteries were present in both groups, whichmore » is therefore not a diagnostic feature of microdeletion 22q11. Our findings indicate that the microdeletion 22q11 is frequent (26% in this series) in a population with VPI, even when not selected for typical facies. We believe this series supports the view that microdeletion 22q11 has a broader clinical phenotype than previously recognized.« less
Douglas A. Cairns - One of the best experts on this subject based on the ideXlab platform.
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recent advances in Hypernasal Speech detection using the nonlinear teager energy operator
International Conference on Spoken Language Processing, 1996Co-Authors: Douglas A. Cairns, John H L Hansen, J F KaiserAbstract:Speakers with a defective velopharyngeal mechanism produce Speech with inappropriate nasal resonance. It is of clinical interest to detect Hypernasality as it is indicative of an anatomical, neurological or peripheral nervous system problem. While clinical techniques exist for detecting Hypernasality, a preferred approach would be noninvasive in order to maximize patient comfort and naturalness of speaking. In this study, a noninvasive technique based on the Teager energy operator is proposed. Employing a proposed model for normal and nasalized Speech, a significant difference between the Teager energy profile for low-pass and band-pass filtered nasalized Speech is shown, which is nonexistent for normal Speech. An optimum classification algorithm is formulated that detects the presence of Hypernasality using a measure of the difference in the Teager energy profiles. The classification algorithm was evaluated using native English speakers producing front and mid-vowels. The results show that the presence of Hypernasality in Speech can be reliably detected (94.7%) using the proposed classification algorithm.
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a noninvasive technique for detecting Hypernasal Speech using a nonlinear operator
IEEE Transactions on Biomedical Engineering, 1996Co-Authors: Douglas A. Cairns, John H L Hansen, J.e. RiskiAbstract:Speakers with a defective velopharyngeal mechanism produce Speech with inappropriate nasal resonance (Hypernasal Speech). It is of clinical interest to detect Hypernasality as it is indicative of an anatomical, neurological, or peripheral nervous system problem. There are various clinical techniques used to determine Hypernasality. The current techniques are physically invasive or intrusive to some extent. A preferred approach for detecting Hypernasality, would be noninvasive to maximize patient comfort and naturalness of speaking. In this study, a noninvasive technique based on the Teager Energy operator is proposed. Utilizing a property of the Teager Energy operator and a model for normal and nasalized Speech, a significant difference between the Teager Energy profile for lowpass and bandpass filtered nasalized Speech is shown. This difference is shown to be nonexistent for normal Speech. A classification algorithm is formulated that detects the presence of Hypernasality using a measure of the difference in the Teager Energy profiles. The classification algorithm was evaluated using a native English speaker population producing front (/i/) and mid (/A/) vowels. Results show that the presence of Hypernasality in Speech can be reliably detected using the proposed classification algorithm.
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Detection of Hypernasal Speech using a nonlinear operator
Proceedings of 16th Annual International Conference of the IEEE Engineering in Medicine and Biology Society, 1Co-Authors: Douglas A. Cairns, John H L Hansen, J.e. RiskiAbstract:Hypernasal Speech is indicative of an underlying problem in the Speech production system that results from either a physical defect, or a dysfunctional nervous system. Current clinical methods for determining whether Speech is normal or Hypernasal are invasive or awkward. A noninvasive system is proposed to classify Speech as normal or Hypernasal based on the nonlinear Teager Energy operator. The performance of the system is evaluated using normal and simulated Hypernasal Speech. Results show that the Teager Energy metric reliably detects the presence of Hypernasality in a Speech sample. >
E J Beckenham - One of the best experts on this subject based on the ideXlab platform.
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velocardiofacial shprintzen syndrome an important syndrome for the dysmorphologist to recognise
Journal of Medical Genetics, 1991Co-Authors: A H Lipson, D Yuille, M Angel, P G Thompson, J G Vandervoord, E J BeckenhamAbstract:We report the dysmorphological, genetic, and Speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a relatively low incidence of clefting, good response to pharyngoplasty, considerable variability of the syndrome, and two further familial cases. We emphasise the low index of suspicion by paediatricians and paediatric subspecialists which resulted in delayed diagnosis and delayed treatment for the Hypernasal Speech and velopharyngeal insufficiency for periods of four months to seven years.