The Experts below are selected from a list of 249 Experts worldwide ranked by ideXlab platform
Karen Berk Smith - One of the best experts on this subject based on the ideXlab platform.
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Prader‐Willi syndrome and Robertsonian translocations involving Chromosome 15
Clinical genetics, 2008Co-Authors: Anthony C. Casamassima, Lawrence R. Shapiro, Patrick L. Wilmot, Karen Berk SmithAbstract:A case of Prader-Willi syndrome is presented in which high resolution Chromosome analysis revealed not only a familial Robertsonian translocation [t(13q15q)], but also a del(15) (q11.2q13) of the Chromosome 15 not involved in the translocation. While there have been numerous reports of Robertsonian translocations involving Chromosome 15 in patients with Prader-Willi syndrome, in this case, the Robertsonian translocation was shown to be unrelated to the clinical findings.
H Remschmidt - One of the best experts on this subject based on the ideXlab platform.
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Genetic linkage analysis with dyslexia: evidence for linkage of spelling disability to Chromosome 15.
European child & adolescent psychiatry, 1999Co-Authors: M M Nöthen, G Schulte-körne, T Grimm, S Cichon, I R Vogt, B Müller-myhsok, P Propping, H RemschmidtAbstract:Dyslexia (reading and spelling disability) is one of the most frequently diagnosed disorders in childhood. Twin studies of dyslexia have indicated that deficits in spelling are substantially heritable and that the heritability of spelling deficits is higher than the heritability of reading deficits. We conducted a linkage study for spelling disability in seven multiplex families from Germany. Following previously reported linkage findings of components of dyslexia to Chromosome 6p21-p22 and 15q21, we genotyped 26 microsatellite markers covering all of Chromosome 6, and 13 microsatellite markers covering all of Chromosome 15. While the Chromosome 6 data were negative, results from Chromosome 15 markers supported a locus on 15q21. The highest two-point LOD score was 1.26 with marker D15S143 at theta = 0. A multipoint LOD score of 1.78 (p = 0.0042) was achieved with a maximum at D15S132. Thus, our results provide independent support for a dyslexia gene on the long arm of Chromosome 15.
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Genetic linkage analysis with dyslexia: evidence for linkage of spelling disability to Chromosome 15.
European Child & Adolescent Psychiatry, 1999Co-Authors: M M Nöthen, G Schulte-körne, T Grimm, S Cichon, I R Vogt, B Müller-myhsok, P Propping, H RemschmidtAbstract:Dyslexia (reading and spelling disability) is one of the most frequently diagnosed disorders in childhood. Twin studies of dyslexia have indicated that deficits in spelling are substantially heritable and that the heritability of spelling deficits is higher than the heritability of reading deficits. We conducted a linkage study for spelling disability in seven multiplex families from Germany. Following previously reported linkage findings of components of dyslexia to Chromosome 6p21–p22 and 15q21, we genotype 26 microsatellite markers covering all of Chromosome 6, and 13 microsatellite markers covering all of Chromosome 15. While the Chromosome 6 data were negative, results from Chromosome 15 markers supported a locus on 15q21. The highest two-point LOD score was 1.26 with marker D15S143 at θ=0. A multipoint LOD score of 1.78 (p=0.0042) was achieved with a maximum at D15S132. Thus, our results provide independent support for a dyslexia gene on the long arm of Chromosome 15.
Mark R. Geier - One of the best experts on this subject based on the ideXlab platform.
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Prenatal diagnosis of a homologous Robertsonian translocation involving Chromosome 15
Prenatal Diagnosis, 2001Co-Authors: Debra J. Abrams, Lisa G Shaffer, Sue Ann Berend, Amy R. Aronoff, Benjamin B. Roa, Mark R. GeierAbstract:We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous Chromosomes are infrequent. Since Chromosome 15 is imprinted, uniparental disomy (UPD) is a concern when chromosomal rearrangements involving Chromosome 15 are identified. In the present case, UPD studies showed normal biparental inheritance. In contrast to the fact that most homologous acrocentric rearrangements are isoChromosomes, these results indicate postzygotic formation of a Robertsonian translocation between biparentally inherited Chromosomes 15. Copyright © 2001 John Wiley & Sons, Ltd.
Anthony C. Casamassima - One of the best experts on this subject based on the ideXlab platform.
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Prader‐Willi syndrome and Robertsonian translocations involving Chromosome 15
Clinical genetics, 2008Co-Authors: Anthony C. Casamassima, Lawrence R. Shapiro, Patrick L. Wilmot, Karen Berk SmithAbstract:A case of Prader-Willi syndrome is presented in which high resolution Chromosome analysis revealed not only a familial Robertsonian translocation [t(13q15q)], but also a del(15) (q11.2q13) of the Chromosome 15 not involved in the translocation. While there have been numerous reports of Robertsonian translocations involving Chromosome 15 in patients with Prader-Willi syndrome, in this case, the Robertsonian translocation was shown to be unrelated to the clinical findings.
Gérard Tachdjian - One of the best experts on this subject based on the ideXlab platform.
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Fetal phenotype of Prader–Willi syndrome due to maternal disomy for Chromosome 15
Prenatal diagnosis, 2003Co-Authors: A. Coulomb L'herminé, Azzedine Aboura, Sophie Brisset, L. Cuisset, V. Castaigne, Philippe Labrune, R. Frydman, Gérard TachdjianAbstract:Prader-Willi syndrome (PWS) results from either paternal deletion of 15q11-q13, or maternal uniparental disomy (UPD) of Chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving Chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for Chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS.