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Chromosome 4p-

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https://www.readbyqxmd.com/read/28901405/genotype-phenotype-analysis-in-a-male-patient-with-partial-trisomy-4p-and-monosomy-20q-due-to-maternal-reciprocal-translocation%C3%A2-4-20-a-case-report
#1
Dong Wu, Hui Zhang, Qiaofang Hou, Hongdan Wang, Tao Wang, Shixiu Liao
Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28641618/-clinical-and-cytogenetic-characteristics-of-two-aml-patients-with-high-level-mll-expression
#2
Jia-Wei Zhao, Kun Ru, Cheng-Wen Li, Ke-Jing Tang, Ying-Chun Zheng, Cheng-Hua Cui, Jing Xiao, Sheng-Hua Chen, Xiao-Jing Wang
OBJECTIVE: To investigate the clinical and cytogenetic characteristics of high-level mixed-lineage leukaemia (MLL) gene amplification in patients with acute myeloid leukemia (AML). METHODS: The clinical and cytogenetic data of 2 AML patients with high-level MLL amplification from January 2010 to August 2016 were analyzed retrospectively. RESULTS: The two AML cases were in middle-aged population. They were diagnosed as FAB subtype M5b and M2a respectively...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28538178/wolf-hirschhorn-syndrome-candidate-1-is-necessary-for-correct-hematopoietic-and-b-cell-development
#3
Elena Campos-Sanchez, Nerea Deleyto-Seldas, Veronica Dominguez, Enrique Carrillo-de-Santa-Pau, Kiyoe Ura, Pedro P Rocha, JungHyun Kim, Arafat Aljoufi, Anna Esteve-Codina, Marc Dabad, Marta Gut, Holger Heyn, Yasufumi Kaneda, Keisuke Nimura, Jane A Skok, Maria Luisa Martinez-Frias, Cesar Cobaleda
Immunodeficiency is one of the most important causes of mortality associated with Wolf-Hirschhorn syndrome (WHS), a severe rare disease originated by a deletion in chromosome 4p. The WHS candidate 1 (WHSC1) gene has been proposed as one of the main genes responsible for many of the alterations in WHS, but its mechanism of action is still unknown. Here, we present in vivo genetic evidence showing that Whsc1 plays an important role at several points of hematopoietic development. Particularly, our results demonstrate that both differentiation and function of Whsc1-deficient B cells are impaired at several key developmental stages due to profound molecular defects affecting B cell lineage specification, commitment, fitness, and proliferation, demonstrating a causal role for WHSC1 in the immunodeficiency of WHS patients...
May 23, 2017: Cell Reports
https://www.readbyqxmd.com/read/28437173/the-karyotype-of-microsternarchus-aff-bilineatus-a-first-case-of-y-chromosome-degeneration-in-gymnotiformes
#4
Jéssica Almeida Batista, Adauto Lima Cardoso, Susana Suely Rodrigues Milhomem-Paixão, Jonathan Stuart Ready, Julio Cesar Pieczarka, Cleusa Yoshiko Nagamachi
Various species and lineages that until recently were identified as Microsternarchus bilineatus (Hypopomidae, Gymnotiformes) have a widespread distribution in the Amazon and Orinoco River basins and across the Guiana shield. Recent molecular studies show five distinct lineages for Microsternarchus from different localities. These results suggest that this previously monotypic genus actually consists of more than one species. Here, we describe the karyotype of M. aff. bilineatus from the Cururutuia River (Bragança, Pará, Brazil)...
June 2017: Zebrafish
https://www.readbyqxmd.com/read/28419948/genetic-generalized-epilepsy-in-three-siblings-with-8q21-13-q22-2-duplication
#5
Arezoo Rezazadeh, Felippe Borlot, Hanna Faghfoury, Danielle M Andrade
PURPOSE: Duplication of chromosome region 8q21-q22 is a rare copy number variant that has been previously reported in a limited number of patients. Although some of these patients had seizures, their electroclinical syndrome has not been described in detail. The aim of this study was to provide further insight into the specific epilepsy syndrome associated with 8q21.13-q22.2 duplication. METHOD: We describe 3 siblings with trisomy of 8q21.13-q22.2 who exhibited intellectual disability, facial dysmorphism and seizures...
April 11, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28407363/de-novo-unbalanced-translocation-4p-duplication-8p-deletion-in-a-patient-with-autism-ocd-and-overgrowth-syndrome
#6
Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J Guter, Carol Macmillan, Edwin H Cook
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. (2011) Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. (2010) Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28266898/hepatic-malignancy-in-an-infant-with-wolf-hirschhorn-syndrome
#7
Sara Rutter, Raffaella A Morotti, Steven Peterec, Patrick G Gallagher
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures. CASE REPORT: This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease. Genetic studies revealed a 9.8 Mb chromosome 4p-terminal deletion. At autopsy, the liver was grossly unremarkable...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28030855/a-rare-de-novo-interstitial-duplication-at-4p15-2-in-a-boy-with-severe-congenital-heart-defects-limb-anomalies-hypogonadism-and-global-developmental-delay
#8
Liyang Liang, Yingjun Xie, Yiping Shen, Qibin Yin, Haiming Yuan
Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments...
2016: Cytogenetic and Genome Research
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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