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microarrays and genetics syndromes

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https://www.readbyqxmd.com/read/29783821/-clinical-and-genetic-analysis-of-eleven-pediatric-patients-with-alagille-syndrome
#1
L Guo, S T Zhao, Y Cheng, M Deng, H Li, Y Z Song, X R Cai, Q Zhou
Objective: To explore the clinical and molecular genetic features of patients with Alagille syndrome (AS). Methods: The clinical data of eleven pediatric patients, who were suspected to have AS at the Department of Pediatrics in the First Affiliated Hospital of Jinan University from August 2010 to March 2017, were collected and analyzed. Genomic DNA was extracted from peripheral blood leukocytes of the patients and their parents. For 5 patients collected before March 2006, all JAG1 exons and their flanking sequences were directly sequenced...
May 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29774977/a-novel-4q25-microdeletion-encompassing-pitx2-associated-with-rieger-syndrome
#2
Yi Yang, Xin Wang, Yuming Zhao, Man Qin
OBJECTIVE: Rieger syndrome (RS) is a genetic disorder characterized by abnormal development of the eyes, teeth, and umbilicus, and the paired like homeodomain 2 (PITX2) gene is often implicated in its pathogenesis. The present study aimed to identify the underlying genetic defect in a Chinese patient with RS. SUBJECTS AND METHODS: DNA samples were screened for PITX2 gene mutations and copy number variations (CNVs) using Sanger sequencing and quantitative genomic PCR analysis (qPCR)...
May 18, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29760529/de-novo-nonsense-mutation-in-whsc1-nsd2-in-patient-with-intellectual-disability-and-dysmorphic-features
#3
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/29750287/an-update-on-common-chromosome-microdeletion-and-microduplication-syndromes
#4
Paula Goldenberg
This review summarizes common microdeletion and microduplication syndromes and highlights important updates in patient-care needs for people with these conditions (22q11.2, 7q11.23, 17p11.2, and 16p11.2). These conditions are in chromosomal "hotspots" and have an estimated prevalence of 1 in 1,000 to 1 in 25,000. Some conditions have possible increased or decreased genetic risk of schizophrenia (22q11.2 deletion and duplication), or risk of aortic dilation (7q11.23 duplication) versus aortic stenosis (7q11...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29747626/differential-plasma-microvesicle-and-brain-profiles-of-microrna-in-experimental-cerebral-malaria
#5
Amy Cohen, Anna Zinger, Natalia Tiberti, Georges E R Grau, Valery Combes
BACKGROUND: Cerebral malaria (CM) is a fatal complication of Plasmodium infection, mostly affecting children under the age of five in the sub-Saharan African region. CM pathogenesis remains incompletely understood, although sequestered infected red blood cells, inflammatory cells aggregating in the cerebral blood vessels, and the microvesicles (MV) that they release in the circulation, have been implicated. Plasma MV numbers increase in CM patients and in the murine model, where blocking their release, genetically or pharmacologically, protects against brain pathology, suggesting a role of MV in CM neuropathogenesis...
May 11, 2018: Malaria Journal
https://www.readbyqxmd.com/read/29747568/classical-fragile-x-phenotype-in-a-female-infant-disclosed-by-comprehensive-genomic-studies
#6
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. CASE PRESENTATION: We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history...
May 10, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29739732/inherited-deletion-of-1q-hyperparathyroidism-and-signs-of-y-chromosomal-influence-in-a-patient-with-turner-syndrome
#7
Alejandro F Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P Dehner, Katherine Semenkovich, Ana María Arbeláez
We report a detailed phenotypic, cytogenetic, and molecular characterization of a patient diagnosed prenatally with Turner syndrome (TS). In addition to having typical TS clinical characteristics such as a webbed neck, high arched palate, and coarctation of the aorta, the patient had features less frequently seen in TS, including recurrent parathyroid adenomas, growth along the 75th-90th centiles on the TS height curve despite a minimal treatment with growth hormone, behavioral problems, and evidence of gonadal dysgenesis with testicular-like structures, such as seminiferous tubules lined by Sertoli cells and a contiguous nodule of Leydig cells...
May 9, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29730598/molecular-genetic-classification-in-prader-willi-syndrome-a-multisite-cohort-study
#8
Merlin G Butler, Samantha N Hartin, Waheeda A Hossain, Ann M Manzardo, Virginia Kimonis, Elisabeth Dykens, June Anne Gold, Soo-Jeong Kim, Nicolette Weisensel, Roy Tamura, Jennifer L Miller, Daniel J Driscoll
BACKGROUND: Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects. METHODS: High-resolution microarrays, comprehensive chromosome 15 genotyping and methylation-specific multiplex ligation probe amplification were used to describe and further characterise molecular classes of maternal disomy 15 (UPD15) considering maternal age...
May 5, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29729532/how-do-we-diagnose-and-treat-epilepsy-with-myoclonic-atonic-seizures-doose-syndrome-results-of-the-pediatric-epilepsy-research-consortium-survey
#9
Katherine Nickels, Ronald Thibert, Stephanie Rau, Scott Demarest, Elaine Wirrell, Eric H Kossoff, Charuta Joshi, Srishti Nangia, Renee Shellhaas
OBJECTIVE: To obtain and assess opinions on EMAS diagnostic criteria, recommended investigations, and therapeutic options, from a large group of physicians who care for children with EMAS. METHODS: The EMAS focus group of PERC created a survey to assess the opinions of pediatric neurologists who care for children with EMAS regarding diagnosis and treatment of this condition, which was sent to members of PERC, AES, and CNS. A Likert scale was used to assess the respondents' opinions on the importance of diagnostic and exclusion criteria (five point scale), investigations (four point scale), and treatment (six point scale) of EMAS...
April 25, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#10
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29675757/fetal-methotrexate-syndrome-and-antley-bixler-syndrome-should-not-be-confused
#11
REVIEW
C Richards, Christine M Hall, D Johnson, Amaka C Offiah
Exposure to methotrexate in utero can result in fetal methotrexate syndrome - a condition characterised by prenatal-onset growth retardation, craniosynostosis, dysmorphic facies and multiple limb abnormalities. A literature review was prompted by the findings in a girl who is presented here with full consent from her guardian. She is the third child of unrelated parents and was 4 years old at the time of this report. Her mother took 15 mg methotrexate on two occasions during early pregnancy for juvenile idiopathic arthritis, unaware that she was pregnant...
April 19, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29652999/-application-of-single-nucleotide-polymorphism-microarray-and-fluorescence-in-situ-hybridization-analysis-for-the-prenatal-diagnosis-of-a-case-with-pallister-killian-syndrome
#12
Wenling Zhang, Zhichao Guo, Weiwei Wang, Yonghui Sun, Chenxi Zhang, Xiaofei Wang, Liwen Zhang, Chengbin Wang
OBJECTIVE: To explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS). METHODS: Chromosomal karyotype of umbilical cord blood sample derived from a 36-year-old pregnant woman was analyzed by G-banding analysis. After birth, the child was further analyzed with single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) using 12pter/12qter probes. RESULTS: G-banding analysis showed that the fetus has a karyotype of 46,XY [77]/47,XY,+mar [23]...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29651777/cost-effectiveness-of-genome-and-exome-sequencing-in-children-diagnosed-with-autism-spectrum-disorder
#13
Tracy Yuen, Melissa T Carter, Peter Szatmari, Wendy J Ungar
BACKGROUND: Genome (GS) and exome sequencing (ES) could potentially identify pathogenic variants with greater sensitivity than chromosomal microarray (CMA) in autism spectrum disorder (ASD) but are costlier and result interpretation can be uncertain. Study objective was to compare the costs and outcomes of four genetic testing strategies in children with ASD. METHODS: A microsimulation model estimated the outcomes and costs (in societal and public payer perspectives in Ontario, Canada) of four genetic testing strategies: CMA for all, CMA for all followed by ES for those with negative CMA and syndromic features (CMA+ES), ES or GS for all...
April 12, 2018: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/29581140/transmission-of-a-tp53-germline-mutation-from-unaffected-male-carrier-associated-with-pediatric-glioblastoma-in-his-child-and-gestational-choriocarcinoma-in-his-female-partner
#14
Jennifer A Cotter, Linda Szymanski, Catherine Karimov, Lara Boghossian, Ashley Margol, Girish Dhall, Benita Tamrazi, G Isaac Varaprasathan, David M Parham, Alexander R Judkins, Jaclyn A Biegel
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by germline alterations in the tumor suppressor gene TP53. LFS is associated with numerous malignancies including astrocytoma. Sanger sequencing and chromosomal microarray studies of blood and tumor tissue from a 4-year-old boy with glioblastoma demonstrated a germline TP53 mutation with loss of heterozygosity for the short arm of chromosome 17 as the second inactivating event in the tumor. There was no family history of LFS, but the child's mother had recently died from metastatic choriocarcinoma after antecedent normal term delivery of a then 6-month-old daughter...
March 26, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29566378/adrenal-insufficiency-sex-reversal-and-angelman-syndrome-due-to-uniparental-disomy-unmasking-a-mutation-in-cyp11a1
#15
Ahlee Kim, Masanobu Fujimoto, Vivian Hwa, Philippe Backeljauw, Andrew Dauber
BACKGROUND/AIMS: Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. METHODS: Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29541814/identification-of-de-novo-and-rare-inherited-copy-number-variants-in-children-with-syndromic-congenital-heart-defects
#16
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
June 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29538673/recurrent-pregnancy-loss-evaluation-combined-with-24-chromosome-microarray-of-miscarriage-tissue-provides-a-probable-or-definite-cause-of-pregnancy-loss-in-over-90-of-patients
#17
F Popescu, C R Jaslow, W H Kutteh
STUDY QUESTION: Will the addition of 24-chromosome microarray analysis on miscarriage tissue combined with the standard American Society for Reproductive Medicine (ASRM) evaluation for recurrent miscarriage explain most losses? SUMMARY ANSWER: Over 90% of patients with recurrent pregnancy loss (RPL) will have a probable or definitive cause identified when combining genetic testing on miscarriage tissue with the standard ASRM evaluation for recurrent miscarriage...
April 1, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29535946/application-of-chromosomal-microarray-for-evaluation-of-idiopathic-short-stature-in-asian-indian-children-a-pilot-study
#18
Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%-80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of short stature are still labeled as idiopathic. Objectives: The aim of this study is to identify various chromosomal alterations causing idiopathic short stature (ISS) and short stature with dysmorphic features not pertaining to known genetic syndromes...
January 2018: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29523099/novel-heterozygous-pathogenic-variants-in-chuk-in-a-patient-with-aec-like-phenotype-immune-deficiencies-and-1q21-1-microdeletion-syndrome-a-case-report
#19
Maxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault
BACKGROUND: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis...
March 9, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29516345/informed-decision-making-in-the-context-of-prenatal-chromosomal-microarray
#20
Jessica Baker, Cheryl Shuman, David Chitayat, Syed Wasim, Nan Okun, Johannes Keunen, Renee Hofstedter, Rachel Silver
The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i...
March 7, 2018: Journal of Genetic Counseling
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