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Wolf-Hirschhorn Syndrome

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https://www.readbyqxmd.com/read/29760529/de-novo-nonsense-mutation-in-whsc1-nsd2-in-patient-with-intellectual-disability-and-dysmorphic-features
#1
Ekaterina R Lozier, Fedor A Konovalov, Ilya V Kanivets, Denis V Pyankov, Philip A Koshkin, Larisa S Baleva, Alla E Sipyagina, Elena N Yakusheva, Anastasiya E Kuchina, Sergey A Korostelev
Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported...
May 14, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29721507/cytogenomic-integrative-network-analysis-of-the-critical-region-associated-with-wolf-hirschhorn-syndrome
#2
Thiago Corrêa, Rafaella Mergener, Júlio César Loguercio Leite, Marcial Francis Galera, Lilia Maria de Azevedo Moreira, José Eduardo Vargas, Mariluce Riegel
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and systems biology strategies, to establish the cytogenomic profile involving the 4p16.3 critical region and suggest WHS-related intracellular cell signaling cascades. The cytogenetic and clinical patient profiles were evaluated...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29717432/classifying-dysmorphic-syndromes-by-using-artificial-neural-network-based-hierarchical-decision-tree
#3
Merve Erkınay Özdemir, Ziya Telatar, Osman Eroğul, Yusuf Tunca
Dysmorphic syndromes have different facial malformations. These malformations are significant to an early diagnosis of dysmorphic syndromes and contain distinctive information for face recognition. In this study we define the certain features of each syndrome by considering facial malformations and classify Fragile X, Hurler, Prader Willi, Down, Wolf Hirschhorn syndromes and healthy groups automatically. The reference points are marked on the face images and ratios between the points' distances are taken into consideration as features...
May 1, 2018: Australasian Physical & Engineering Sciences in Medicine
https://www.readbyqxmd.com/read/29675261/growth-trajectory-and-pubertal-tempo-from-birth-till-final-height-in-a-girl-with-wolf-hirschhorn-syndrome
#4
Jia Xuan Siew, Fabian Yap
Growth anomaly is a prominent feature in Wolf-Hirschhorn syndrome (WHS), a rare congenital disorder caused by variable deletion of chromosome 4p. While growth charts have been developed for WHS patients 0-4 years of age and growth data available for Japanese WHS patients 0-17 years, information on pubertal growth and final height among WHS children remain lacking. Growth hormone (GH) therapy has been reported in two GH-sufficient children with WHS, allowing for pre-puberty catch up growth; however, pubertal growth and final height information was also unavailable...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29626710/prenatal-diagnosis-of-wolf-hirschhorn-syndrome-ultrasonography-and-molecular-karyotyping-results
#5
Li Zhen, Shu-Shu Fan, Lv-Yin Huang, Min Pan, Jin Han, Xin Yang, Dong-Zhi Li
OBJECTIVE: To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. STUDY DESIGN: This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. RESULTS: Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma...
March 31, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29492108/human-ring-chromosome-registry-for-cases-in-the-chinese-population-re-emphasizing-cytogenomic-and-clinical-heterogeneity-and-reviewing-diagnostic-and-treatment-strategies
#6
REVIEW
Qiping Hu, Hongyan Chai, Wei Shu, Peining Li
Background: Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29477837/a-survey-of-antiepileptic-drug-responses-identifies-drugs-with-potential-efficacy-for-seizure-control-in-wolf-hirschhorn-syndrome
#7
Karen S Ho, Leah M Markham, Hope Twede, Amanda Lortz, Lenora M Olson, Xiaoming Sheng, Cindy Weng, E Robert Wassman, Tara Newcomb, E Robert Wassman, John C Carey, Agatino Battaglia
Seizures are present in over 90% of infants and children with Wolf-Hirschhorn syndrome (WHS). When present, they significantly affect quality of life. The goal of this study was to use caregiver reports to describe the comparative efficacies of commonly used antiepileptic medications in a large population of individuals with WHS. A web-based, confidential caregiver survey was developed to capture seizure semiology and a chronologic record of seizure treatments as well as responses to each treatment. Adverse events for each drug were also cataloged...
April 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29357837/detecting-tf-mirna-gene-network-based-modules-for-5hmc-and-5mc-brain-samples-a-intra-and-inter-species-case-study-between-human-and-rhesus
#8
Ujjwal Maulik, Sagnik Sen, Saurav Mallik, Sanghamitra Bandyopadhyay
BACKGROUND: Study of epigenetics is currently a high-impact research topic. Multi stage methylation is also an area of high-dimensional prospect. In this article, we provide a new study (intra and inter-species study) on brain tissue between human and rhesus on two methylation cytosine variants based data-profiles (viz., 5-hydroxymethylcytosine (5hmC) and 5-methylcytosine (5mC) samples) through TF-miRNA-gene network based module detection. RESULTS: First of all, we determine differentially 5hmC methylated genes for human as well as rhesus for intra-species analysis, and differentially multi-stage methylated genes for inter-species analysis...
January 22, 2018: BMC Genetics
https://www.readbyqxmd.com/read/29241927/prenatal-diagnosis-of-a-1-6-mb-4p16-3-interstitial-microdeletion-encompassing-fgfrl1-and-tacc3-associated-with-bilateral-cleft-lip-and-palate-of-wolf-hirschhorn-syndrome-facial-dysmorphism-and-short-long-bones
#9
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of a 4p16.3 interstitial microdeletion associated with bilateral cleft lip and palate and short long bones on prenatal ultrasound, and we discuss the genotype-phenotype correlation. MATERIALS AND METHODS: A 32-year-old woman underwent amniocentesis at 22 weeks of gestation because of bilateral cleft lip and palate and short limbs on prenatal ultrasound. Conventional cytogenetic analysis was performed on cultured amniocytes and parental bloods...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29239919/accessory-auricles-systematic-review-of-definition-associated-conditions-and-recommendations-for-clinical-practice
#10
Sasan Amirhassankhani, Mark S Lloyd
Accessory auricles are rare congenital abnormalities embryologically derived from the first branchial arch. Presentation may be variable with locations grouped into anatomical zones based on the frequency of location found in the literature. This study reviewed the papers between 1981 and 2017. Findings included an association with syndromes including Goldenhar, VACTERL, Treacher-Collins, Townes-Brocks, and Wolf-Hirschhorn. Based on histological and embryological evidence, the term "accessory auricle" is best used as an umbrella term to define this difference...
March 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29204299/diabetes-mellitus-secondary-to-acute-pancreatitis-in-a-child-with-wolf-hirschhorn-syndrome
#11
Asma Deeb
Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disease caused by deletion in the short arm of chromosome 4. It is characterized by typical fascial features and a varying degree of intellectual disabilities and multiple systemic involvement. Epidemiological studies confirmed the association of acute pancreatitis with the development of diabetes. However, this association has not been reported in WHS. We report an 18-year-old girl with WHS who presented acutely with nonketotic Hyperglycemic Hyperosmolar Status (HHS) in association with severe acute pancreatitis...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29199884/congenital-cavitary-optic-disc-anomaly-and-axenfeld-s-anomaly-in-wolf-hirschhorn-syndrome-a-case-report-and-review-of-the-literature
#12
Mohsin H Ali, Nathalie F Azar, Vinay Aakalu, Felix Y Chau, Javaneh Abbasian, Pete Setabutr, Irene H Maumenee
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography...
April 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29193639/oligonephronia-and-wolf-hirschhorn-syndrome-a-further-observation
#13
Antonio Gatto, Pietro Ferrara, Chiara Leoni, Roberta Onesimo, Marcella Zollino, Francesco Emma, Giuseppe Zampino
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). We describe a case of a male 9 years old children with WHS proteinuria and hypertension. Laboratory data showed creatinine 1.05 mg/dl, GFR 65.9 ml/min/1.73 m2 , cholesterol 280 mg/dl, triglyceride 125 mg/dl with electrolytes in the normal range. Urine collection showed protein 2.72 g/L with a urine protein/creatinine ratio (UP /UCr ratio) of 4.2 and diuresis of 1,100 ml. Renal ultrasound showed reduced kidney dimensions with diffusely hyperechogenic cortex and poorly visualized pyramids...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29090255/anesthetic-considerations-for-a-pediatric-patient-with-wolf-hirschhorn-syndrome-a-case-report
#14
Masanori Tsukamoto, Hitoshi Yamanaka, Takeshi Yokoyama
Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management...
September 2017: Journal of Dental Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/28981940/-prenatal-genetic-analysis-of-a-fetus-with-wolf-hirschhorn-syndrome-and-edward-syndrome
#15
Xueping Shen, Pingya He, Rong Fang, Juan Yao, Wenwen Li
OBJECTIVE: To screen for genomic copy number variants (CNVs) in a fetus with cardiac abnormalities and intrauterine growth retardation through single nucleotide polymorphism microarray (SNP array) and karyotyping analysis. METHODS: The fetus and its parents were subjected to conventional G banding and SNP-array analysis. The results were confirmed with fluorescence in situ hybridization (FISH). RESULTS: G-banding analysis showed that the fetus has a karyotype of 47,XX,+mar...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981937/-application-of-chromosomal-microarray-analysis-for-fetuses-with-ventricular-septal-defects
#16
Qiong Deng, Fang Fu, Ru Li, Xiangyi Jing, Tingying Lei, Xin Yang, Min Pan, Li Zhen, Jin Han, Can Liao
OBJECTIVE: To explore the genetic etiology of fetuses with ventricular septal defects (VSD) using chromosomal microarray analysis (CMA). METHODS: A total of 248 fetuses were divided into isolated VSD group, VSD with other cardiac and/or great vessels malformation group, VSD with extra-cardiac anomalies group (including malformation and sonographic soft markers), and VSD with both cardiac and extra-cardiac anomalies group. Standard karyotyping was carried out for all fetuses, and CMA was performed for 6 fetuses with an abnormal karyotype and a proportion of fetuses with a normal karyotype...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28818479/a-structured-assessment-of-motor-function-behavior-and-communication-in-patients-with-wolf-hirschhorn-syndrome
#17
Heidi E Nag, David K Bergsaker, Bente S Hunn, Susanne Schmidt, Lise B Hoxmark
The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ), and the Child Behavior Checklist (CBCL) or Adult Behavior Checklist (ABCL) were used for the behavioral assessment...
November 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28794913/wolf-hirschhorn-syndrome-clinical-and-genetic-data-from-a-first-case-diagnosed-in-central-africa
#18
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28673238/report-of-an-unsual-case-of-anophthalmia-and-craniofacial-cleft-in-a-newborn-with-toxoplasma-gondii-congenital-infection
#19
Gabriel Emmanuel Arce-Estrada, Valeria Gómez-Toscano, Carlos Cedillo-Peláez, Ana Luisa Sesman-Bernal, Vanessa Bosch-Canto, José Luis Mayorga-Butrón, José Antonio Vargas-Villavicencio, Dolores Correa
BACKGROUND: We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only. CASE PRESENTATION: A two-month-old male had a twin in utero who disappeared between the 7th and the 14th week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood...
July 3, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28654864/wolf-hirschhorn-syndrome-candidate-1-whsc1-functions-as-a-tumor-suppressor-by-governing-cell-differentiation
#20
Chuan Yu, Xiaomin Yao, Linjie Zhao, Ping Wang, Qian Zhang, Chengjian Zhao, Shaohua Yao, Yuquan Wei
Wolf-Hirschhorn syndrome candidate 1 (WHSC1) is a histone 3 lysine 36 (H3K36) specific methyltransferase that is frequently deleted in Wolf-Hirschhorn syndrome (WHS). Whsc1 is also found mutated in a subgroup of B-cell derived malignant diseases by genomic translocation or point mutation, both of which resulted in hyperactivity of WHSC1 mediated H3K36 methylation and uncontrolled cell proliferation, suggesting that whsc1 functions as an oncogene. However, here we provided evidences to show that whsc1 also has tumor suppressor functions...
June 24, 2017: Neoplasia: An International Journal for Oncology Research
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