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https://www.readbyqxmd.com/read/28533481/massively-parallel-sequencing-and-genome-wide-copy-number-analysis-revealed-a-clonal-relationship-in-benign-metastasizing-leiomyoma
#1
Ren-Chin Wu, An-Shine Chao, Li-Yu Lee, Gigin Lin, Shu-Jen Chen, Yen-Jung Lu, Huei-Jean Huang, Chi-Feng Yen, Chien Min Han, Yun-Shien Lee, Tzu-Hao Wang, Angel Chao
Benign metastasizing leiomyoma (BML) is a rare disease entity typically presenting as multiple extrauterine leiomyomas associated with a uterine leiomyoma. It has been hypothesized that the extrauterine leiomyomata represent distant metastasis of the uterine leiomyoma. To date, the only molecular evidence supporting this hypothesis was derived from clonality analyses based on X-chromosome inactivation assays. Here, we sought to address this issue by examining paired specimens of synchronous pulmonary and uterine leiomyomata from three patients using targeted massively parallel sequencing and molecular inversion probe array analysis for detecting somatic mutations and copy number aberrations...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28527972/genetic-and-epigenetic-alterations-in-meningiomas
#2
REVIEW
Vasiliki Galani, Evangeli Lampri, Anna Varouktsi, George Alexiou, Antigoni Mitselou, Athanasios P Kyritsis
Meningiomas originate from the arachnoid layer of the meninges and divided histologically into three grades: benign (grade I), atypical (grade II), and malignant meningiomas (grade III). Genetic alterations in grade I meningiomas include frequent deletions of chromosomal locus 22q12 and NF2 gene mutations and uncommon somatic SMARCB1 and SMARCE1gene mutations; In grade II meningiomas, chromosomal losses occur on 1p, 22q, 14q, 18q, 10, and 6q, and gains on 20q, 12q, 15q, 1q, 9q, and 17q; In grade III meningiomas, losses have been recognized on 6q, 10, and 14q and alterations of PTEN, CDKN2A and CDKN2B genes...
May 3, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28504856/cell-free-dna-copy-number-variations-in-plasma-from-colorectal-cancer-patients
#3
Jian Li, Rachel L Dittmar, Shu Xia, Huijuan Zhang, Meijun Du, Chiang-Ching Huang, Brooke R Druliner, Lisa Boardman, Liang Wang
To evaluate clinical utility of cell free DNA (cfDNA), we performed whole genome sequencing to systematically examine plasma cfDNA copy number variations (CNVs) in a cohort of patients with colorectal cancer (CRC, n=80), polyps (n=20) and healthy controls (n=35). We initiallycompared cfDNA yield in 20 paired serum-plasma samples and observed significantly higher cfDNA concentration in serum (median=81.20ng, range 7.18-500ng/ml) than in plasma (median=5.09ng, range 3.76-62.8ng/ml) (p<0.0001). However, tumor-derived cfDNA content was significantly lower in serum than in matched plasma samples tested...
May 15, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28486223/novel-unbalanced-translocations-affecting-the-long-arms-of-chromosomes-10-and-22-cause-complex-syndromes-with-very-severe-neurodevelopmental-delay-speech-impairment-autistic-behavior-and-epilepsy
#4
Emanuele G Coci, Andrea Auhuber, Anna Langenbach, Kristin Mrasek, Joachim Riedel, Andreas Leenen, Thomas Lücke, Thomas Liehr
Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth...
May 10, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28441280/the-clinical-utility-of-flexion-extension-cervical-spine-mri-in-22q11-2-deletion-syndrome
#5
Samuel E Kolman, Stephanie Y Ohara, Aashim Bhatia, Tamara Feygin, Dino Colo, Keith D Baldwin, Donna Mcdonald-Mcginn, David A Spiegel
BACKGROUND: Our goal is to correlate the findings on flexion and extension radiographs with dynamic magnetic resonance imaging (MRI), and the clinical history, in a nonrandomly selected cohort of patients with 22q11.2 deletion syndrome (22q). METHODS: All patients with the 22q who had a dynamic MRI from January 2004 to March 2015 were included. We analyzed multiple radiographic measurements on both the dynamic plain films and the MRIs, and correlated these findings with a review of each patient's medical record...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28390597/association-of-airway-abnormalities-with-22q11-2-deletion-syndrome
#6
Rosalba Sacca, Karen B Zur, T Blaine Crowley, Elaine H Zackai, Kathleen D Valverde, Donna M McDonald-McGinn
INTRODUCTION: 22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine, cognitive, and psychiatric issues. However, an association of 22q11.2DS with structural airway abnormalities has not been formally described. The aim of this study was to document the frequency of this association. METHODS: We retrospectively reviewed medical records of patients with 22q11.2DS evaluated in the 22q and You Center at the Children's Hospital of Philadelphia between 1999 and 2015 referred to otolaryngology for an airway assessment...
May 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28328136/22q11-2q13-duplication-including-sox10-causes-sex-reversal-and-peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-and-hirschsprung-disease
#7
Nadia Falah, Jennifer E Posey, Willa Thorson, Paul Benke, Mustafa Tekin, Brocha Tarshish, James R Lupski, Tamar Harel
Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including SOX10. Sequencing of the coding region of SOX10 did not reveal any mutations...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28295212/constitutional-lztr1-mutation-presenting-with-a-unilateral-vestibular-schwannoma-in-a-teenager
#8
Karen W Gripp, Laura Baker, Vinay Kandula, Joseph Piatt, Andrew Walter, Zhenbin Chen, Ludwine Messiaen
Schwannomatosis is a rare neurofibromatosis clinically diagnosed by age-dependent criteria, with bilateral vestibular schwannoma and/or a constitutional NF2 mutation representing exclusion criteria. Following SMARCB1 germline mutations, constitutional mutations in LZTR1 were discovered. We report on the molecular investigation in a patient presenting at 14 years with a unilateral vestibular schwannoma, ultimately causing blindness and unilateral hearing loss, in the absence of other schwannomas or a positive family history...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#9
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28202261/hyperprolinemia-as-a-clue-in-the-diagnosis-of-a-patient-with-psychiatric-manifestations
#10
Marco Duarte, Joana Afonso, Ana Moreira, Diana Antunes, Cristina Ferreira, Hildeberto Correia, Margarida Marques, Sílvia Sequeira
Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment...
June 2017: Brain & Development
https://www.readbyqxmd.com/read/28186589/-clinical-and-molecular-cytogenetic-analysis-of-a-family-with-mental-retardation-caused-by-an-unbalanced-translocation-involving-chromosomes-3-and-22
#11
Kaihui Zhang, Rui Dong, Yan Huang, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Yi Liu, Zhongtao Gai
OBJECTIVE: To explore the genetic cause of a Chinese boy with unexplained mental retardation, and analyze the pattern of inheritance for his family. METHODS: Routine karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) were used to detect chromosome abnormalities in the patient and his families. RESULTS: Chromosome analysis suggested that the proband and 7 affected individuals had an identical karyotype 46,XN,der(22)t(3;22)(q28;q13)pat, while his father and 5 other relatives carried a same karyotype of 46,XN,t(3;22)(q28;q13)...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28177878/whole-genome-sequencing-identifies-new-genetic-alterations-in-meningiomas
#12
Mei Tang, Heng Wei, Lu Han, Jiaojiao Deng, Yuelong Wang, Meijia Yang, Yani Tang, Gang Guo, Liangxue Zhou, Aiping Tong
The major known genetic contributor to meningioma formation was NF2, which is disrupted by mutation or loss in about 50% of tumors. Besides NF2, several recurrent driver mutations were recently uncovered through next-generation sequencing. Here, we performed whole-genome sequencing across 7 tumor-normal pairs to identify somatic genetic alterations in meningioma. As a result, Chromatin regulators, including multiple histone members, histone-modifying enzymes and several epigenetic regulators, are the major category among all of the identified copy number variants and single nucleotide variants...
March 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28177551/the-significance-of-a-prenatal-diagnosis-of-right-aortic-arch
#13
Anna Wójtowicz, Maria Respondek-Liberska, Maciej Słodki, Paulina Kordjalik, Joanna Płużańska, Anna Knafel, Hubert Huras
OBJECTIVES: To analyze a population of fetuses with prenatally diagnosed right aortic arch (RAA). METHODS: Retrospective study of fetuses with RAA diagnosed prenatally between 2011 and 2015 in two referral centers. RESULTS: Right aortic arch was found in 4.4% (46/1036) of fetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, RAA was present in 30.4% of cases; in 32.6%, other CVA were detected; in 23.9%, CVA and extracardiac anomalies; and in 13...
February 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28059097/fibrous-hamartoma-of-infancy-a-clinicopathologic-study-of-145-cases-including-2-with-sarcomatous-features
#14
Alyaa Al-Ibraheemi, Anthony Martinez, Sharon W Weiss, Harry P Kozakewich, Antonio R Perez-Atayde, Henry Tran, David M Parham, William R Sukov, Karen J Fritchie, Andrew L Folpe
Fibrous hamartoma of infancy is a rare soft tissue lesion of infants and young children with characteristic triphasic morphology, which typically occurs in the axilla and less commonly in other locations. We reviewed 145 cases of fibrous hamartoma of infancy from our consultation archives. Cases occurred in 106 males and 39 females (mean age-15 months; range-birth to 14 years), and involved both typical sites (eg, axilla/back/upper arm) (n=69) and unusual locations (n=76). Six were congenital. The tumors presented as subcutaneous masses and ranged from 0...
April 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28019650/genomic-analysis-reveals-frequent-traf7-mutations-in-intraneural-perineuriomas
#15
Christopher J Klein, Yanhong Wu, Mark E Jentoft, Georges Mer, Robert J Spinner, P James B Dyck, Peter J Dyck, Michelle L Mauermann
Intraneural perineuriomas are benign peripheral nerve sheath tumors that cause progressive debilitating focal extremity weakness. The etiology of perineuriomas is largely unknown. We utilized whole exome sequencing, copy number algorithm evaluation, and high-resolution whole genome microarray to investigate for a genetic causal link to intraneural perineuriomas. Ten of 16 (60%) tumor cases had mutations in the WD40 domain of TRAF7, the same location for causal mutations of meningiomas. Two additional perineurioma cases had large chromosomal abnormalities in multiple chromosomes, including chromosome 22q...
December 26, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27958595/childhood-neurofibromatosis-type-2-nf2-and-related-disorders-from-bench-to-bedside-and-biologically-targeted-therapies
#16
M Ruggieri, A D Praticò, A Serra, L Maiolino, S Cocuzza, P Di Mauro, L Licciardello, P Milone, G Privitera, G Belfiore, M Di Pietro, F Di Raimondo, A Romano, A Chiarenza, M Muglia, A Polizzi, D G Evans
Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and (few) café-au-lait spots. Clinically, NF2 children fall into two main groups: (1) congenital NF2 - with bilateral VSs detected as early as the first days to months of life, which can be stable/asymptomatic for one-two decades and suddenly progress; and (2) severe pre-pubertal (Wishart type) NF2- with multiple (and rapidly progressive) CNS tumours other-than-VS, which usually present first, years before VSs [vs...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27926794/metastatic-type-a-thymoma-morphological-and-genetic-correlation
#17
Tobias Bürger, Inga-Marie Schaefer, Stefan Küffer, Hanibal Bohnenberger, Kirsten Reuter-Jessen, John Kwok-Cheung Chan, Alexander Emmert, Marc Hinterthaner, Alexander Marx, Philipp Ströbel
AIMS: The vast majority of type A thymomas are diagnosed in tumour stages 1 or 2, and metastatic cases are exceedingly rare. The histological and genetic features of such metastatic type A thymomas have not been described in detail. METHODS AND RESULTS: Five metastatic type A thymomas in tumour stage Masaoka IVb that had been reviewed by a panel of expert pathologists were analysed using comparative genomic hybridization (CGH). Cases 1, 2 and 3 showed the prototypical morphology of type A thymomas with mainly solid growth patterns...
April 2017: Histopathology
https://www.readbyqxmd.com/read/27921248/the-molecular-pathogenesis-of-schwannomatosis-a-paradigm-for-the-co-involvement-of-multiple-tumour-suppressor-genes-in-tumorigenesis
#18
REVIEW
Hildegard Kehrer-Sawatzki, Said Farschtschi, Victor-Felix Mautner, David N Cooper
Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours...
February 2017: Human Genetics
https://www.readbyqxmd.com/read/27863505/a-genomic-case-study-of-desmoplastic-small-round-cell-tumor-comprehensive-analysis-reveals-insights-into-potential-therapeutic-targets-and-development-of-a-monitoring-tool-for-a-rare-and-aggressive-disease
#19
Elisa Napolitano Ferreira, Bruna Durães Figueiredo Barros, Jorge Estefano de Souza, Renan Valieris Almeida, Giovana Tardin Torrezan, Sheila Garcia, Ana Cristina Victorino Krepischi, Celso Abdon Lopes de Mello, Isabela Werneck da Cunha, Clóvis Antonio Lopes Pinto, Fernando Augusto Soares, Emmanuel Dias-Neto, Ademar Lopes, Sandro José de Souza, Dirce Maria Carraro
BACKGROUND: Genome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma arising from mesenchymal cells of abdominal peritoneum that usually develops in male adolescents and young adults. A specific translocation, t(11;22)(p13;q12), resulting in EWS and WT1 gene fusion is the only recurrent molecular hallmark and no other genetic factor has been associated to this aggressive tumor...
November 18, 2016: Human Genomics
https://www.readbyqxmd.com/read/27846046/clinical-and-molecular-characterization-of-three-genomic-rearrangements-at-chromosome-22q13-3-associated-with-autism-spectrum-disorder
#20
Chia-Hsiang Chen, Hsin-I Chen, Hsiao-Mei Liao, Yann-Jang Chen, Jye-Siung Fang, Kuei-Fang Lee, Susan Shur-Fen Gau
OBJECTIVES: Chromosome 22q13 is a hot region of genomic rearrangements that may result in deletion, duplication, and translocation, and that may lead to neurodevelopmental disorders in affected patients. MATERIALS AND METHODS: We carried out an array-based comparative genomic hybridization analysis to detect copy number variations (CNVs) of genomic DNA in patients with autism spectrum disorders (ASD) who were consecutively recruited into our molecular genetic study of ASD...
November 11, 2016: Psychiatric Genetics
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