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Cianci Vittoria V Regional Epilepsy Centre, Azienda Bianchi-Melacrino-Morelli Hospital, Reggio - - 2014
The XYY syndrome is a sex chromosome aneuploidy occurring in one of 1,000 live male births. Only few data exist regarding the correlation between this syndrome and epilepsy. An EEG pattern suggestive of benign focal epilepsy with centro-temporal spikes has recently been described in four XYY patients. We report the ...
Zollino Marcella M Institute of Medical Genetics, Catholic University, University Hospital A. Gemelli, Roma, - - 2014
Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate ...
Prasun Pankaj P Division of Genetics & Metabolic Disorders, Department of Pediatrics, Wayne State University School of Medicine, Detroit, - - 2014
Homozygous or compound heterozygous microdeletion of 15q13.3 region is a rare but clinically recognizable syndrome manifested by profound intellectual disability, muscular hypotonia, intractable seizures, and visual impairment. We identified a compound heterozygous 15q13.3 microdeletion in a 23-month-old girl with global developmental delay, generalized muscular hypotonia, and visual dysfunction. The larger ...
Bisulli Francesca F IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, - - 2014
To clinically and genetically characterize a large Brazilian family with autosomal dominant partial epilepsy with auditory features (ADPEAF) not related to leucine-rich, glioma-inactivated 1 (LGI1) gene. Seventy family members (four married-ins) participating in the study were assessed by a detailed clinical interview and a complete neurologic examination. Genetic mapping was ...
Zhong Min - - 2014
Infantile spasm (IS) is an epilepsy syndrome affecting infants and young toddlers and many causes have been reported, including occasional chromosomal abnormalities. We describe a 6-month-oldboy who experienced his first seizure at 5 months of age. The seizures were characterized by brief head nods and forceful flexion of the trunk ...
Tassano Elisa E Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, Genoa 16147, - - 2014
Interstitial deletions of chromosome bands 14q24.1q24.3 are very rare with only three reported cases. We describe a 7-year-old boy with a 5.345 Mb de novo interstitial deletion at 14q24.1q24.3 band detected by array-CGH who had a complex phenotype characterized by seizures, congenital heart defects, dysmorphisms, psychomotor delay, and bronchopulmonary, skeletal, and ...
Shimizu Kenji K Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, - - 2013
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome of the distal 4p chromosome, characterized by craniofacial features, growth impairment, intellectual disability, and seizures. Although genotype-phenotype correlation studies have previously been published, several important issues remain to be elucidated including seizure severity. We present detailed clinical and molecular-cytogenetic findings from ...
Bagheri Nika - - 2013
ABSTRACT Background: Retinoschisis, or retinal lamellar splitting, can occur in a number of hereditary conditions. The most common cause of congenital or childhood onset retinoschisis is the clinical entity known as juvenile retinoschsis, which is caused by mutations in the X-linked retinoschisis 1 gene. Genes other than X-linked retinoschisis 1 ...
Spreiz Ana - - 2013
Epilepsy is a common finding in patients with chromosomal macro- and micro-rearrangements but only few aberrations show a constant pattern of seizures. DNA array-based studies have reported causative copy number variations (CNVs) in 5-30% of patients with epilepsy with or without co-morbidities. The interpretation of many of the detected CNVs ...
Schauwecker P E - - 2013
Prior studies with crosses of the FVB/NJ (FVB; seizure-induced cell death-susceptible) mouse and the C57BL/6J (B6; seizure-induced cell death-resistant) mouse revealed the presence of a quantitative trait locus (QTL) on chromosome 15 that influenced susceptibility to kainic acid-induced cell death (Sicd2). In an earlier study, we confirmed that the Sicd2 ...
Incecik Faruk F Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey. - - 2013
Ring chromosome 14 syndrome is a rare genetic disorder. Typically, children with this syndrome have distinct facial features, development delay, microcephaly, seizures, ocular abnormalities, and recurrent respiratory infections. Epilepsy associated with ring chromosome 14 generally shows intractable seizures. We describe a six-month-old girl with ring chromosome 14 syndrome who presented ...
Walleigh Diana J - - 2013
Ring chromosome 20 is a genetic disorder characterized by intractable epilepsy, behavioral problems, and cognitive deficit. The potassium channel-coding gene KCNQ2 is localized at the locus q13.3 on the chromosome 20, the most common site where the ring occurs. Ezogabine is the first potassium channel opener marketed in the United ...
Kaur A - - 2013
Wang X., Xiao F. (2010) Familial Focal Epilepsy with Variable Foci. In: Panayiotopoulos C. Atlas of Epilepsies: SpringerReference (www.springerreference.com). Vol 3, 1147-1152 Klein K. M., O'Brien T. J., Praveen K., Heron S. E., Mulley J. C., Foote S., Berkovic S. F., Scheffer I. E. (2012) Familial focal epilepsy with variable ...
Coppola Antonietta - - 2013
Interstitial deletions of the long arm of the chromosome 17 are relatively rare. Up to 17 cases involving the q22-q23.3 band have been reported so far. A common phenotype has not yet been delineated and epilepsy has been reported in only 2 out of 17 cases. We describe a clinical ...
Bassuk Alexander G AG Department of Pediatrics, University of Iowa, Iowa City, IA, - - 2013
Rare copy number variants (CNVs) have been established as an important cause of various neurodevelopmental disorders, including intellectual disability (ID) and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. Here we present two siblings and their mother who have mild ID, short stature, ...
Marini Carla - - 2013
Interstitial chromosome 15q11-q13 duplications are associated with developmental delay, behavioral problems and additional manifestations, including epilepsy. In most affected individuals the duplicated chromosome is maternally derived, whereas paternal inheritance is more often associated with a normal phenotype. Seizures have not been described in patients with paternal dup 15q11-q13. We describe ...
Jun Kyung Ran - - 2013
Chromosome 1q41q42 microdeletions have been classified as a syndrome consisting of significant developmental delay, seizures, and characteristic dysmorphic features. They harbor different breakpoints and their smallest region of overlap at 1q41q42 involves several genes, including DISP1. Deletion or variants of DISP1 have been proposed as a candidate for the midline ...
Lindgren Amelia M AM Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, - - 2013
We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate. Fluorescence in situ hybridization and whole-genome sequencing demonstrated that the X chromosome breakpoint disrupts KDM6A in the second intron. No genes ...
Zuberi Sameer M - - 2013
Epilepsy is a feature of several hundred chromosome abnormalities. However, there are relatively few conditions in which epilepsy is a consistent feature and even fewer in which the electroclinical phenotype is recognizable. Advances in cytogenetics and molecular genetics are leading to the detection of more complex and smaller chromosomal re-arrangements, ...
Imataka G G Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi, Japan. - - 2013
Ring chromosome 14 (r14) is clinically characterized by early-onset epilepsy, mental retardation, delayed speech, microcephaly, extremely mild facial dysmorphisms and ophthalmologic abnormalities. We report a case presenting with partial seizures and delayed development in infancy in which r14 was diagnosed based on chromosomal analysis. The patient was a girl with ...
Petersen Andrea Klunder - - 2012
Deletions on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotypes which include intellectual disability, autism, seizures, microcephaly/craniofacial dysmorphology, corpus callosal agenesis/hypogenesis, cardiac and genital anomalies, hand and foot abnormalities and short stature. Genotype-phenotype correlation reported a minimum region of 2 ...
Kim Jon Soo - - 2012
We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic ...
Mefford Heather C - - 2012
A cause of antiepileptic medication resistant seizures presenting in neonates and young infants is pyridoxine-dependent epilepsy (PDE), an organic aciduria, which is due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin. Since the discovery of molecular basis of this disorder, a few patients have been reported ...
Abu-Amero Khaled K - - 2012
Purpose: To evaluate possible monogenic and chromosomal anomalies in a patient with bilateral Duane retraction syndrome and hearing impairment resulting in a phenotype resembling the HOXA1 spectrum disorder. Methods: Sequencing HOXA1 and performing high resolution array comparative genomic hybridization (arrayCGH). Results: The proband had bilateral Duane retraction syndrome (DRS) with ...
Thapa L J - - 2012
With the advances in neurogenetics association of epilepsy and intellectual disability with chromosomal abnormalities are being increasingly recognized. While onset of seizures with mental retardation at an early age indicate chromosomal abnormality, combination of characteristics facial dysmorphism and congenital abnormalities gives a clue of a particular syndrome. In addition MRI ...
Reed Kent M - - 2011
The MHC of the turkey (Meleagris gallopavo) is divided into two genetically unlinked regions; the MHC-B and MHC-Y. Although previous studies found the turkey MHC-B to be highly similar to that of the chicken, little is known of the gene content and extent of the MHC-Y. This study describes two ...
Camelo-Piragua Sandra S James Homer Wright Pathology Laboratories, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, - - 2011
One of the major challenges of surgical neuropathology is the distinction of diffuse astrocytoma (World Health Organization grade II) from astrocytosis. The most commonly used ancillary tool to solve this problem is p53 immunohistochemistry (IHC), but this is neither sensitive nor specific. Isocitrate dehydrogenase 1 (IDH1) mutations arecommon in lower-grade ...
Zhang Yang - - 2011
A robust bacterial artificial chromosome (BAC)-based physical map is essential for many aspects of genomics research, including an understanding of chromosome evolution, high-resolution genome mapping, marker-assisted breeding, positional cloning of genes, and quantitative trait analysis. To facilitate turkey genetics research and better understand avian genome evolution, a BAC-based integrated physical, ...
Gu Xiaorong - - 2011
Chicken body weight is an economically important trait and great genetic progress has been accomplished in genetic selective for body weight. To identify genes and chromosome regions associated with body weight, we performed a genome-wide association study using the chicken 60 k SNP panel in a chicken F2 resource population ...
Aslam Muhammad L - - 2011
The turkey (Meleagris gallopavo) is an important agricultural species and is the second largest contributor to the world's poultry meat production. Demand of turkey meat is increasing very rapidly. Genetic markers linked to genes affecting quantitative traits can increase the selection response of animal breeding programs. The use of these ...
Sharakhova Maria V - - 2010
Physical mapping is a useful approach for studying genome organization and evolution as well as for genome sequence assembly. The availability of polytene chromosomes in malaria mosquitoes provides a unique opportunity to develop high-resolution physical maps. We report a 0.6-Mb-resolution physical map consisting of 422 DNA markers hybridized to 379 ...
Upcroft Jacqui A JA Queensland Institute of Medical Research, Brisbane, Australia. - - 2010
Two genotypes, assemblages A and B, of the pathogenic gut protozoan parasite Giardia lamblia infect humans. Symptoms of infection range from asymptomatic to chronic diarrhea. Giardia chromosomes have long been characterized but not until the publication of the first Giardia genome sequence was chromosome mapping work, commenced nearly two decades ...
Xiong Z - - 2010
Bacterial artificial chromosome (BAC) contigs have been genetically mapped to the 10 linkage groups of Brassica rapa by BAC end sequences (BES). To integrate the genetic, physical, and cytogenetic maps, fluorescence in situ hybridization (FISH) was used to anchor the assembly of BAC contigs onto Brassica chromosomes using representative BACs. ...
George P P Department of Entomology, Virginia Tech, Blacksburg, VA, - - 2010
Cytogenetic and physical maps are indispensible for precise assembly of genome sequences, functional characterization of chromosomal regions, and population genetic and taxonomic studies. We have created a new cytogenetic map for Anopheles gambiae by using a high-pressure squash technique that increases overall band clarity. To link chromosomal regions to the ...
Krauer K G - - 2010
The gut protozoan parasite, Giardia lamblia (Assemblage A), has 5 major chromosomes, 1 of which is 2 Mb, as determined from gel separations of whole chromosomes. We originally published a physical map of this chromosome and, now, using the sequence data from 46 chromosome-specific probes, have produced a sequence map ...
Fonsêca Artur - - 2010
A cytogenetic map of common bean was built by in situ hybridization of 35 bacterial artificial chromosomes (BACs) selected with markers mapping to eight linkage groups, plus two plasmids for 5S and 45S ribosomal DNA and one bacteriophage. Together with three previously mapped chromosomes (chromosomes 3, 4, and 7), 43 ...
Achenbach Ute C - - 2010
Potato chromosome 5 harbours numerous genes for important qualitative and quantitative traits, such as resistance to the root cyst nematode Globodera pallida and the late blight fungus, Phytophthora infestans. The genes make up part of a "hot spot" for resistances to various pathogens covering a genetic map length of 3 ...
Fraser James - - 2010
The "Chromosome Conformation Capture" (3C) and 3C-related technologies are used to measure physical contacts between DNA segments at high resolution in vivo. 3C studies indicate that genomes are likely organized into dynamic networks of physical contacts between genes and regulatory DNA elements. These interactions are mediated by proteins and are ...
Fujii Tsuguru - - 2010
We carried out genetic and cytogenetic analyses of X-ray-induced deleterious Z chromosomes that result in a soft and pliable (spli) phenotype in the silkworm, Bombyx mori. In a B. mori strain with a spli phenotype, we found the Z chromosome broken between the sch (1-21.5) and od (1-49.6) loci. We ...
Solinhac Romain - - 2010
The chicken karyotype is composed of 39 chromosome pairs, of which 9 still remain totally absent from the current genome sequence assembly, despite international efforts towards complete coverage. Some others are only very partially sequenced, amongst which microchromosome 16 (GGA16), particularly under-represented, with only 433 kb assembled for a full ...
Vergara Ismael A - - 2010
Accurate identification of synteny blocks is an important step in comparative genomics towards the understanding of genome architecture and expression. Most computer programs developed in the last decade for identifying synteny blocks have limitations. To address these limitations, we recently developed a robust program called OrthoCluster, and an online database ...
Zhao Yonghui - - 2010
With its incredible strength and toughness, spider dragline silk is widely lauded for its impressive material properties. Dragline silk is composed of two structural proteins, MaSp1 and MaSp2, which are encoded by members of the spidroin gene family. While previous studies have characterized the genes that encode the constituent proteins ...
Vu Giang T H GT Institute of Biological, Environmental and Rural Sciences, Aberystwyth University, Aberystwyth, United - - 2010
Physical and linkage mapping underpin efforts to sequence and characterize the genomes of eukaryotic organisms by providing a skeleton framework for whole genome assembly. Hitherto, linkage and physical "contig" maps were generated independently prior to merging. Here, we develop a new and easy method, BAC HAPPY MAPPING (BAP mapping), that ...
Chelo Ivo M - - 2010
Pulsed-field gel electrophoresis analysis of chromosomal single and double restriction profiles of 17 strains belonging to three genera of 'Leuconostocaceae' was done, resulting in physical and genetic maps for three Fructobacillus, six Leuconostoc and four Weissella strains. AscI, I-CeuI, NotI and SfiI restriction enzymes were used together with Southern hybridization ...
Eizirik Eduardo - - 2010
Mammalian coat patterns (e.g., spots, stripes) are hypothesized to play important roles in camouflage and other relevant processes, yet the genetic and developmental bases for these phenotypes are completely unknown. The domestic cat, with its diversity of coat patterns, is an excellent model organism to investigate these phenomena. We have ...
Olano-Marin Juanita - - 2010
We have characterized a set of 106 microsatellite markers in 26-127 individual blue tits (Cyanistes caeruleus), and assigned their location on the zebra finch (Taeniopygia guttata) and on the chicken (Gallus gallus) genome on the basis of sequence homology. Thirty-one markers are newly designed from zebra finch EST (expressed sequence ...
Li Wentian - - 2009
The genome-wide recombination rate (RR) of a species is often described by one parameter, the ratio between total genetic map length (G) and physical map length (P), measured in centimorgans per megabase (cM/Mb). The value of this parameter varies greatly between species, but the cause for these differences is not ...
Kukekova Anna V AV James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA. - - 2009
High-quality sequencing of the dog (Canis lupus familiaris) genome has enabled enormous progress in genetic mapping of canine phenotypic variation. The red fox (Vulpes vulpes), another canid species, also exhibits a wide range of variation in coat color, morphology, and behavior. Although the fox genome has not yet been sequenced, ...
Bugno M - - 2009
The results obtained in the present study enabled the physical map of the donkey genome to be extended with markers associated with recurrent airway obstruction (RAO), a major performance-limiting disease of Equidae. The equine BAC clone containing the IL4R and CLCA1 genes were localized to EAS 14q13 and EAS 6q15 ...
Wu C H - - 2009
Ovis aries chromosome one (OAR1) is the largest submetacentric chromosome in the sheep genome and is homologous to regions on human chromosomes 1, 2, 3 and 21. Using the USUoRH5000 ovine whole-genome radiation hybrid (RH) panel, we have constructed a RH map of OAR1 comprising 102 framework and 75 placed/binned ...
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