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https://www.readbyqxmd.com/read/28329999/bilateral-cystic-coloboma-with-microphtalmos-and-eyelid-agenesis-us-and-mri-findings
#1
Youssef Omor, Benjamin Dhaene, Veronique Toppet, Marie Cassart, Patrice Jissendi-Tchofo
INTRODUCTION: The combination of bilateral microphthalmos, cystic coloboma and eyelid agenesis is rare. The definite diagnosis of this malformation is established by fundoscopic examination and confirmed by imaging modalities such as ultrasonography (US) and magnetic resonance imaging (MRI). This disorder may be associated with specific chromosomal abnormalities. CASE REPORT: A 1-week-old male newborn was referred for bilateral eyelid agenesis. He was born at term by caesarean for foetal distress, after an uneventful gestation...
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28329049/surgical-treatment-of-pulmonary-atresia-with-major-aortopulmonary-collateral-arteries-in-83-consecutive-patients%C3%A2
#2
Oleksandr D Babliak, Yaroslav B Mykychak, Oleksandra O Motrechko, Illya M Yemets
OBJECTIVES: This article reports the safety and efficacy of a morphology-based algorithm for the surgical management of pulmonary atresia and ventricular septal defect with major aortopulmonary collateral arteries. METHODS: A total of 83 patients were operated from 2007 to 2014 using 3 surgical approaches: one-stage total repair, one-stage unifocalization with central shunt and delayed total repair and multistage unifocalization with subsequent total repair. Patients were divided into 2 groups depending on the surgical strategy used to choose the surgical approach...
March 2, 2017: European Journal of Cardio-thoracic Surgery
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
#3
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/28328119/cover-image-volume-173a-number-4-april-2017
#4
Paul Kruszka, Yonit A Addissie, Daniel E McGinn, Antonio R Porras, Elijah Biggs, Matthew Share, T Blaine Crowley, Brian H Y Chung, Gary T K Mok, Christopher C Y Mak, Premala Muthukumarasamy, Meow-Keong Thong, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, L B Lahiru Prabodha, Rupesh Mishra, Vorasuk Shotelersuk, Ekanem Nsikak Ekure, Ogochukwu Jidechukwu Sokunbi, Nnenna Kalu, Carlos R Ferreira, Jordann-Mishael Duncan, Siddaramappa Jagdish Patil, Kelly L Jones, Julie D Kaplan, Omar A Abdul-Rahman, Annette Uwineza, Leon Mutesa, Angélica Moresco, María Gabriela Obregon, Antonio Richieri-Costa, Vera L Gil-da-Silva-Lopes, Adebowale A Adeyemo, Marshall Summar, Elaine H Zackai, Donna M McDonald-McGinn, Marius George Linguraru, Maximilian Muenke
The cover image, by Paul Kruszka et al., is based on the Original Article 22q11.2 deletion syndrome in diverse populations, DOI: 10.1002/ajmg.a.38199. Individual images are property of the National Human Genome Research Institute and are in the public domain.
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328118/22q11-2-deletion-syndrome-in-diverse-populations
#5
Paul Kruszka, Yonit A Addissie, Daniel E McGinn, Antonio R Porras, Elijah Biggs, Matthew Share, T Blaine Crowley, Brian H Y Chung, Gary T K Mok, Christopher C Y Mak, Premala Muthukumarasamy, Meow-Keong Thong, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, L B Lahiru Prabodha, Rupesh Mishra, Vorasuk Shotelersuk, Ekanem Nsikak Ekure, Ogochukwu Jidechukwu Sokunbi, Nnenna Kalu, Carlos R Ferreira, Jordann-Mishael Duncan, Siddaramappa Jagdish Patil, Kelly L Jones, Julie D Kaplan, Omar A Abdul-Rahman, Annette Uwineza, Leon Mutesa, Angélica Moresco, María Gabriela Obregon, Antonio Richieri-Costa, Vera L Gil-da-Silva-Lopes, Adebowale A Adeyemo, Marshall Summar, Elaine H Zackai, Donna M McDonald-McGinn, Marius George Linguraru, Maximilian Muenke
22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28322025/prevalence-of-hearing-loss-and-clinical-otologic-manifestations-in-patients-with-22q11-2-deletion-syndrome-a-literature-review
#6
Emmy Verheij, Laura S M Derks, Inge Stegeman, Henricus G X M Thomeer
BACKGROUND: Hearing loss and otitis media are frequently reported in patients with 22q11.2 deletion syndrome. OBJECTIVE OF REVIEW: Our objective was to review the current literature on the prevalence of hearing loss and otologic manifestations in patients with 22q11.2 deletion syndrome. TYPE OF REVIEW: Systematic review. SEARCH STRATEGY: We conducted a systematic search in PubMed and Embase combining the term '22q11...
March 21, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28302550/the-22q11-2-deletion-syndrome-in-congenital-heart-defects-prevalence-of-microdeletion-syndrome-in-cameroon
#7
Ambroise Wonkam, Ricardo Toko, David Chelo, Cedrik Tekendo-Ngongang, Samuel Kingue, Sophie Dahoun
BACKGROUND: The 22q11.2 deletion syndrome is amongst the most common microdeletion syndrome in humans. Its prevalence remains unknown in sub-Saharan Africa, and its clinical features are under-reported for people of African descent. OBJECTIVE: We have investigated the prevalence of the 22q11.2 deletion syndrome in patients with congenital heart defects in Cameroon. METHODS: A total of 70 of 100 cases of congenital cardiac malformation with echocardiographic evidence were examined prospectively and tested for the 22q11...
March 13, 2017: Global Heart
https://www.readbyqxmd.com/read/28293297/incidence-of-the-22q11-2-deletion-in-a-large-cohort-of-miscarriage-samples
#8
Melissa K Maisenbacher, Katrina Merrion, Barbara Pettersen, Michael Young, Kiyoung Paik, Sushma Iyengar, Stephanie Kareht, Styrmir Sigurjonsson, Zachary P Demko, Kimberly A Martin
BACKGROUND: The 22q11.2 deletion syndrome is the most common microdeletion syndrome in livebirths, but data regarding its incidence in other populations is limited and also include ascertainment bias. This study was designed to determine the incidence of the 22q11.2 deletion in miscarriage samples sent for clinical molecular cytogenetic testing. RESULTS: Twenty-six thousand one hundred one fresh product of conception (POC) samples were sent to a CLIA- certified, CAP-accredited laboratory from April 2010--May 2016 for molecular cytogenetic miscarriage testing using a single-nucleotide polymorphism (SNP)-based microarray platform...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28287069/ictus-emeticus-presenting-as-an-unusual-seizure-type-in-chromosome-22q11-2-deletion-syndrome
#9
Pi-Lien Hung, Li-Tung Huang, Shang-Yeong Kwan, Kai-Ping Chang, Hsin-Hung Chen, Yi-Yen Lee, Hueng-Chuen Fan, Chien Chen
We present a case study of a patient with chromosome 22q11.2 deletion syndrome presenting with ictus emeticus, together with a review of the relevant literature. The patient developed generalized tonic-clonic seizures at 3 months old, and seizures eventually remitted after calcium therapy. He then experienced vigorous vomiting that occurred during sleep, with glassy eyes and legs flexion. Video-EEG recordings exhibited a switch in background activity from organized reactivity during normal sleep to left lateralized temporal delta activity, which was bilaterally synchronized during an emetic attack...
March 8, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28276184/childhood-predictors-of-written-expression-in-late-adolescents-with-22q11-2-deletion-syndrome-a-longitudinal-study
#10
N Hamsho, K M Antshel, T L Eckert, W R Kates
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the second most prevalent genetic syndrome and has a characteristic academic and behavioural phenotype. The primary objective of the current study was to examine the childhood predictors of written expression achievement in adolescents with 22q11DS. Written expression is an important skill that can impact an individual's overall academic performance, potentially resulting in increased levels of stress and exacerbation of psychiatric symptoms...
March 8, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28272434/a-3-base-pair-deletion-in-tbx1-leads-to-reduced-protein-expression-and-transcriptional-activity
#11
Yuejuan Xu, Shaohai Fang, Erge Zhang, Tian Pu, Ruixue Cao, Qihua Fu, Fen Li, Sun Chen, Kun Sun, Rang Xu
Transcription factor TBX1 plays a pivotal role in heart development and has been implicated in 22q11.2 deletion syndrome. The structure of this protein has been elucidated, and several mutations have been identified that disrupt TBX1 localization, DNA/protein-binding, or mRNA expression. This study reports a mutation in the TBX1 gene that leads to significantly reduced expression of the mutant protein. A total of 773 conotruncal heart defect patients and 516 unrelated healthy control individuals were enrolled, none of which harbored a 22q11...
March 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28265405/22q11-2-microduplication-syndrome-with-associated-esophageal-atresia-tracheo-esophageal-fistula-and-vascular-ring
#12
Linda T Nguyen, Rachel Fleishman, Emilee Flynn, Rajeev Prasad, Achintya Moulick, Cesar Igor Mesia, Sue Moyer, Reena Jethva
This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo-esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication.
March 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28259864/-an-attempt-to-identify-22q11-2-microdeletions-in-samples-of-the-hungarian-schizophrenia-dna-bank-by-multiplex-ligation-based-probe-amplification-mlpa-literature-review-methodology-and-results
#13
Izabella Klein, Katalin Szocs, Katalin Vincze, Judit Benkovits, Szilvia Somogyi, Levente Herman, Janos M Rethelyi
Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and social isolation) and a life-time prevalence of 0.5-1.2%. In spite of the efforts to uncover the etiology of the disorder, its pathogenesis and neurobiological background are poorly understood. Given the high heritability in schizophrenia, genetic research remains an important area of focus...
December 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28247486/developmental-changes-in-the-cognitive-and-educational-profiles-of-children-and-adolescents-with-22q11-2-deletion-syndrome
#14
Valentina Tobia, Sophie Brigstocke, Charles Hulme, Margaret J Snowling
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans. The presence of learning difficulty is reported in the majority of individuals with 22q11DS, but there is considerable heterogeneity in cognitive and educational profiles and in the age-related changes. METHOD: Verbal, non-verbal and spatial abilities, and educational attainment of 18 children and adolescents with 22q11DS were assessed at two time points 5 years apart...
March 1, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28238318/-answer-to-the-article-by-f-%C3%A2-vialrd-et-al-does-the-prevalence-of-recurrent-pathogenic-microdeletions-and-microdoublements-in-prenatal-diagnosis-lead-to-a-reassessment-of-the-evolution-of-non-invasive-screening-techniques-the-example-of-region-22q11-2
#15
https://www.readbyqxmd.com/read/28238316/-does-the-prevalence-of-recurrent-pathogenic-microdeletions-and-microdoublements-in-prenatal-diagnosis-lead-to-a-reassessment-of-the-evolution-of-non-invasive-screening-techniques-the-example-of-region-22q11-2
#16
F Vialard, C Rouillac-Le Sciellour, J Besseau-Ayasse, C Oheix, B Hervé, D Molina-Gomes
No abstract text is available yet for this article.
January 2017: Gynecol Obstet Fertil Senol
https://www.readbyqxmd.com/read/28230630/update-on-the-22q11-2-deletion-syndrome-and-its-relevance-to-schizophrenia
#17
Lily Van, Erik Boot, Anne S Bassett
PURPOSE OF REVIEW: Schizophrenia occurs in ∼25% of individuals with 22q11.2 deletion syndrome (22q11.2DS), the strongest known molecular genetic risk factor for schizophrenia. This review highlights recent literature in 22q11.2DS as it pertains to psychosis and schizophrenia. RECENT FINDINGS: Advances in noninvasive prenatal testing allow for early detection of 22q11.2DS in utero, whereas premature birth has been shown to be a significant risk factor for development of psychotic illness in 22q11...
February 21, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28223510/pemapper-and-pecaller-provide-a-simplified-approach-to-whole-genome-sequencing
#18
H Richard Johnston, Pankaj Chopra, Thomas S Wingo, Viren Patel, Michael P Epstein, Jennifer G Mulle, Stephen T Warren, Michael E Zwick, David J Cutler
The analysis of human whole-genome sequencing data presents significant computational challenges. The sheer size of datasets places an enormous burden on computational, disk array, and network resources. Here, we present an integrated computational package, PEMapper/PECaller, that was designed specifically to minimize the burden on networks and disk arrays, create output files that are minimal in size, and run in a highly computationally efficient way, with the single goal of enabling whole-genome sequencing at scale...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28221368/no-evidence-for-the-presence-of-genetic-variants-predisposing-to-psychotic-disorders-on-the-non-deleted-22q11-2-allele-of-vcfs-patients
#19
M Guipponi, F Santoni, M Schneider, C Gehrig, X B Bustillo, W R Kates, B Morrow, M Armando, S Vicari, F Sloan-Béna, M Gagnebin, V Shashi, S R Hooper, S Eliez, S E Antonarakis
The velo-cardio-facial syndrome (VCFS) is caused by hemizygous deletions on chromosome 22q11.2. The VCFS phenotype is complex and characterized by frequent occurrence of neuropsychiatric symptoms with up to 25-30% of cases suffering from psychotic disorders compared with only ~1% in the general population (odds ratio≈20-25). This makes the 22q11.2 deletion one of the most prominent risk factors for schizophrenia. However, its penetrance for neuropsychiatric phenotypes is incomplete suggesting that additional risk factors are required for disease development...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28209179/the-social-brain-network-in-22q11-2-deletion-syndrome-a-diffusion-tensor-imaging-study
#20
Amy K Olszewski, Zora Kikinis, Christie S Gonzalez, Ioana L Coman, Nikolaos Makris, Xue Gong, Yogesh Rathi, Anni Zhu, Kevin M Antshel, Wanda Fremont, Marek R Kubicki, Sylvain Bouix, Martha E Shenton, Wendy R Kates
BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder that is associated with a 25-fold increase in schizophrenia. Both individuals with 22q11.2DS and those with schizophrenia present with social cognitive deficits, which are putatively subserved by a network of brain regions that are involved in the processing of social cognitive information. This study used two-tensor tractography to examine the white matter tracts believed to underlie the social brain network in a group of 57 young adults with 22q11...
February 16, 2017: Behavioral and Brain Functions: BBF
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