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Chromosome 4p-

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https://www.readbyqxmd.com/read/27822388/screening-for-subtelomeric-rearrangements-in-thai-patients-with-intellectual-disabilities-using-fish-and-review-of-literature-on-subtelomeric-fish-in-15-591-cases-with-intellectual-disabilities
#1
Chariyawan Charalsawadi, Jariya Khayman, Verayuth Praphanphoj, Pornprot Limprasert
We utilized fluorescence in situ hybridization (FISH) to screen for subtelomeric rearrangements in 82 Thai patients with unexplained intellectual disability (ID) and detected subtelomeric rearrangements in 5 patients. Here, we reported on a patient with der(20)t(X;20)(p22.3;q13.3) and a patient with der(3)t(X;3)(p22.3;p26.3). These rearrangements have never been described elsewhere. We also reported on a patient with der(10)t(7;10)(p22.3;q26.3), of which the same rearrangement had been reported in one literature...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27776527/real-time-monitoring-of-the-sugar-sensing-in-saccharomyces-cerevisiae-indicates-endogenous-mechanisms-for-xylose-signaling
#2
Daniel P Brink, Celina Borgström, Felipe G Tueros, Marie F Gorwa-Grauslund
BACKGROUND: The sugar sensing and carbon catabolite repression in Baker's yeast Saccharomyces cerevisiae is governed by three major signaling pathways that connect carbon source recognition with transcriptional regulation. Here we present a screening method based on a non-invasive in vivo reporter system for real-time, single-cell screening of the sugar signaling state in S. cerevisiae in response to changing carbon conditions, with a main focus on the response to glucose and xylose. RESULTS: The artificial reporter system was constructed by coupling a green fluorescent protein gene (yEGFP3) downstream of endogenous yeast promoters from the Snf3p/Rgt2p, SNF1/Mig1p and cAMP/PKA signaling pathways: HXT1p/2p/4p; SUC2p, CAT8p; TPS1p/2p and TEF4p respectively...
October 24, 2016: Microbial Cell Factories
https://www.readbyqxmd.com/read/27610251/ring-chromosome-4-in-a-child-with-multiple-congenital-abnormalities-a-case-report-and-review-of-the-literature
#3
C S Paththinige, N D Sirisena, U G I U Kariyawasam, L P C Saman Kumara, V H W Dissanayake
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27504263/wolf-hirschhorn-4p-syndrome-with-west-syndrome
#4
Hirotaka Motoi, Tohru Okanishi, Sotaro Kanai, Takuya Yokota, Tomohiro Yamazoe, Mitsuyo Nishimura, Ayataka Fujimoto, Takamichi Yamamoto, Hideo Enoki
Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27192890/partial-trisomy-4p-and-partial-monosomy-13q-case-report-and-a-literature-review
#5
REVIEW
S Puvabanditsin, G Herrera-Garcia, N Gengel, K Hussein, M February, J Mayne, R Mehta
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocephaly, absent corpus callosum, bulbous tip of the nose, large and low set ears, macroglossia, thin upper lip, double outlet right ventricle, atria/ventricular septal defect, cleft mitral valve, pulmonary stenosis, single umbilical artery, multicystic dysplastic left kidney, sacral dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27165085/telomere-length-of-individual-chromosomes-in-patients-with-rheumatoid-arthritis
#6
E A Blinova, E V Zinnatova, M Sh Barkovskaya, V I Borisov, A E Sizikov, V S Kozhevnikov, N B Rubtsov, V A Kozlov
We analyzed telomere length of individual chromosomes in peripheral blood lymphocytes of healthy individuals and patients with rheumatoid arthritis. Quantitative fluorescent in situ hybridization and subsequent computer analysis of metaphase chromosomes showed that distribution of telomere length on individual chromosomes is different under normal and pathological conditions. Patients with rheumatoid arthritis had significantly shorter chromosome 4p telomeres, which can be essential for pathogenesis of this multifactorial disease...
April 2016: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/26960370/analyses-of-genotypes-and-phenotypes-of-ten-chinese-patients-with-wolf-hirschhorn-syndrome-by-multiplex-ligation-dependent-probe-amplification-and-array-comparative-genomic-hybridization
#7
Wen-Xu Yang, Hong Pan, Lin Li, Hai-Rong Wu, Song-Tao Wang, Xin-Hua Bao, Yu-Wu Jiang, Yu Qi
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH). METHODS: Clinical information was collected from ten patients with WHS...
March 20, 2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/26798408/dna-methylation-in-a-scottish-family-multiply-affected-by-bipolar-disorder-and-major-depressive-disorder
#8
Rosie May Walker, Andrea Nikie Christoforou, Daniel L McCartney, Stewart W Morris, Nicholas A Kennedy, Peter Morten, Susan Maguire Anderson, Helen Scott Torrance, Alix Macdonald, Jessika Elizabeth Sussmann, Heather Clare Whalley, Douglas H R Blackwood, Andrew Mark McIntosh, David John Porteous, Kathryn Louise Evans
BACKGROUND: Bipolar disorder (BD) is a severe, familial psychiatric condition. Progress in understanding the aetiology of BD has been hampered by substantial phenotypic and genetic heterogeneity. We sought to mitigate these confounders by studying a multi-generational family multiply affected by BD and major depressive disorder (MDD), who carry an illness-linked haplotype on chromosome 4p. Within a family, aetiological heterogeneity is likely to be reduced, thus conferring greater power to detect illness-related changes...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/26797656/successful-treatment-of-migrating-partial-seizures-in-wolf-hirschhorn-syndrome-with-bromide
#9
Ayako Itakura, Yoshiaki Saito, Yoko Nishimura, Tetsuya Okazaki, Koyo Ohno, Hitoshi Sejima, Toshiyuki Yamamoto, Yoshihiro Maegaki
A girl with mild psychomotor developmental delay developed right or left hemiclonic convulsion at 10months of age. One month later, clusters of hemiclonic or bilateral tonic seizures with eyelid twitching emerged, resulting in status epilepticus. Treatment with phenobarbital and potassium bromide completely terminated the seizures within 10days. Ictal electroencephalography revealed a migrating focus of rhythmic 3-4Hz waves from the right temporal to right frontal regions and then to the left frontal regions...
August 2016: Brain & Development
https://www.readbyqxmd.com/read/26773575/c-376g-a-mutation-in-wfs1-gene-causes-wolfram-syndrome-without-deafness
#10
Behnam Safarpour Lima, Hamid Ghaedi, Narsis Daftarian, Hamid Ahmadieh, Javad Jamshidi, Mehdi Khorrami, Rezvan Noroozi, Nasim Sohrabifar, Farhad Assarzadegan, Omid Hesami, Shaghayegh Taghavi, Azadeh Ahmadifard, Minoo Atakhorrami, Simin Rahimi-Aliabadi, Neda Shahmohammadibeni, Elham Alehabib, Monavvar Andarva, Hossein Darvish, Babak Emamalizadeh
Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome. We investigated a family consisted of parents and 8 children, which 5 of them have been diagnosed for Wolfram syndrome. WFS1 gene in all family members was sequenced for causative mutations...
February 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26747863/chromosomal-microarray-testing-identifies-a-4p-terminal-region-associated-with-seizures-in-wolf-hirschhorn-syndrome
#11
Karen S Ho, Sarah T South, Amanda Lortz, Charles H Hensel, Mallory R Sdano, Rena J Vanzo, Megan M Martin, Andreas Peiffer, Christophe G Lambert, Amy Calhoun, John C Carey, Agatino Battaglia
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS. We hypothesised that the size and location of the deleted region may correlate with seizure presentation. METHODS: Using chromosomal microarray analysis, we finely mapped the breakpoints of copy number variants (CNVs) in 48 individuals with WHS. Seizure phenotype data were collected through parent-reported answers to a comprehensive questionnaire and supplemented with available medical records...
April 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26690596/subtelomeric-screening-in-serbian-children-with-dysmorphic-features-and-unexplained-developmental-delay-intellectual-disabilities
#12
Tatjana Damnjanovic, Goran Cuturilo, Nela Maksimovic, Nikola Dimitrijevic, Vesna Mitic, Biljana Jekic, Ljiljana Lukovic, Vera Bunjevacki, Tatjana Varljen, Valerija Dobricic, Ida Jovanovic, Vladimir Kostic, Ivana Novakovic
Developmental delay and intellectual disabilities (DD/ID) are significant health problems affecting 3% of the human population. Submicroscopic chromosomal rearrangements involving subtelomeric regions are often considered to be the cause of unexplained DD/ID. Screening of subtelomeric regions was performed in 80 unrelated patients with DD/ID and normal GTG-banded chromosomes using the MLPA method with two kits (SALSA P070-B1 and P036-E1). The MLPA screening revealed subtelomeric chromosome aberrations in four cases (5%)...
March 2015: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/26637389/meiotic-and-pedigree-segregation-analyses-in-carriers-of-t-4-8-p16-p23-1-differing-in-localization-of-breakpoint-positions-at-4p-subband-4p16-3-and-4p16-1
#13
Alina T Midro, Marcella Zollino, Ewa Wiland, Barbara Panasiuk, Piotr S Iwanowski, Marina Murdolo, Robert Śmigiel, Maria Sąsiadek, Jacek Pilch, Maciej Kurpisz
PURPOSE: The purpose of this study was to compare meiotic segregation in sperm cells from two carriers with t(4;8)(p16;p23.1) reciprocal chromosome translocations (RCTs), differing in localization of the breakpoint positions at the 4p subband-namely, 4p16.3 (carrier 1) and 4p16.1 (carrier 2)-and to compare data of the pedigree analyses performed by direct method. METHODS: Three-color fluorescent in situ hybridization (FISH) on sperm cells and FISH mapping for the evaluation of the breakpoint positions, data from pedigrees, and direct segregation analysis of the pedigrees were performed...
February 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/26554554/a-large-indian-family-with-rearrangement-of-chromosome-4p16-and-3p26-3-and-divergent-clinical-presentations
#14
Thomas Iype, Vafa Alakbarzade, Mary Iype, Royana Singh, Ajith Sreekantan-Nair, Barry A Chioza, Tribhuvan M Mohapatra, Emma L Baple, Michael A Patton, Thomas T Warner, Christos Proukakis, Abhi Kulkarni, Andrew H Crosby
BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a more variable degree of intellectual deficit and dysmorphism. Similarly the phenotype of individuals with terminal deletions of distal chromosome 3p (3p deletion syndrome) varies from mild to severe intellectual deficit, micro- and trigonocephaly, and a distinct facial appearance...
November 10, 2015: BMC Medical Genetics
https://www.readbyqxmd.com/read/26409826/integrative-genomics-analysis-of-genes-with-biallelic-loss-and-its-relation-to-the-expression-of-mrna-and-micro-rna-in-esophageal-squamous-cell-carcinoma
#15
Nan Hu, Chaoyu Wang, Robert J Clifford, Howard H Yang, Hua Su, Lemin Wang, Yuan Wang, Yi Xu, Ze-Zhong Tang, Ti Ding, Tongwu Zhang, Alisa M Goldstein, Carol Giffen, Maxwell P Lee, Philip R Taylor
BACKGROUND: Genomic instability plays an important role in human cancers. We previously characterized genomic instability in esophageal squamous cell carcinomas (ESCC) in terms of loss of heterozygosity (LOH) and copy number (CN) changes in tumors. In the current study we focus on biallelic loss and its relation to expression of mRNA and miRNA in ESCC using results from 500 K SNP, mRNA, and miRNA arrays in 30 cases from a high-risk region of China. RESULTS: (i) Biallelic loss was uncommon but when it occurred it exhibited a consistent pattern: only 77 genes (<0...
September 26, 2015: BMC Genomics
https://www.readbyqxmd.com/read/26351122/making-chromosome-abnormalities-treatable-conditions
#16
Jannine DeMars Cody, Daniel Esten Hale
Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p-, 5p-, 11q-, 18p-, and 18q-). It focuses on the increased in understanding of the molecular underpinnings and envisions how these can be transformed into effective treatments. While it is scientifically exciting to see the phenotypic manifestations of hemizygosity being increasingly understood at the molecular and cellular level, it is even more amazing to consider that we are now on the road to making chromosome abnormalities treatable conditions...
September 2015: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/26252097/-prenatal-diagnosis-of-a-case-with-combined-wolf-hirschhorn-syndrome-and-jacobsen-syndrome
#17
Yanling Dong, Huamei Hu, Hua Hu, Rong Zhang, Bin Hu, Yang Long, Gang Xu, Hong Yao
OBJECTIVE: To detect chromosomal imbalance in a fetus with complex congenital heart disease, and to correlate the genotype with the phenotype. METHODS: Routine G-banding was carried out to analyze the karyotypes of the fetus and its parents, and single nucleotide polymorphisms array (SNP-array) was used for delineating fine genomic aberrations. The detected aberrations were confirmed with multiplex ligation-dependent probe amplification (MLPA). RESULTS: The fetus and its parents all showed a normal karyotype, while array-SNP has detected a 13...
August 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/26087053/chromosomal-diversity-and-karyotype-evolution-in-south-american-macaws-psittaciformes-psittacidae
#18
Ivanete de Oliveira Furo, Rafael Kretschmer, Patrícia C O'Brien, Malcolm A Ferguson-Smith, Edivaldo Herculano Corrêa de Oliveira
Most species of macaws, which represent the largest species of Neotropical Psittacidae, characterized by their long tails and exuberant colours, are endangered, mainly because of hunting, illegal trade and habitat destruction. Long tailed species seem to represent a monophyletic group within Psittacidae, supported by cytogenetic data. Hence, these species show karyotypes with predominance of biarmed macrochromosomes, in contrast to short tailed species, with a predominance of acro/telocentric macrochromosomes...
2015: PloS One
https://www.readbyqxmd.com/read/26082657/hardy-weinberg-equilibrium-analysis-of-the-48-bp-vntr-in-the-iii-exon-of-the-drd4-gene-in-a-sample-of-parents-of-adhd-cases
#19
Salvador Trejo, José J Toscano-Flores, Esmeralda Matute, María de Lourdes Ramírez-Dueñas
The aim of this study was to obtain the genotype and gene frequency from parents of children with attention-deficit/hyperactivity disorder (ADHD) and then assess the Hardy-Weinberg equilibrium of genotype frequency of the variable number tandem repeat (VNTR) III exon of the dopamine receptor D4 (DRD4) gene. The genotypes of the III exon of 48 bp VNTR repeats of the DRD4 gene were determined by polymerase chain reaction in a sample of 30 parents of ADHD cases. In the 60 chromosomes analyzed, the following frequencies of DRD4 gene polymorphisms were observed: six chromosomes (c) with two repeat alleles (r) (10%); 1c with 3r (1...
2015: Application of Clinical Genetics
https://www.readbyqxmd.com/read/26079385/junctophilin-3-jph3-expansion-mutations-causing-huntington-disease-like-2-hdl2-are-common-in-south-african-patients-with-african-ancestry-and-a-huntington-disease-phenotype
#20
Amanda Krause, Claire Mitchell, Fahmida Essop, Susan Tager, James Temlett, Giovanni Stevanin, Christopher Ross, Dobrila Rudnicki, Russell Margolis
Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder, characterized by abnormal movements, cognitive decline, and psychiatric symptoms, caused by a CAG repeat expansion in the huntingtin (HTT) gene on chromosome 4p. A CAG/CTG repeat expansion in the junctophilin-3 (JPH3) gene on chromosome 16q24.2 causes a Huntington disease-like phenotype (HDL2). All patients to date with HDL2 have some African ancestry. The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the JPH3 mutation...
October 2015: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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