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    [Application for prenatal diagnosis using both chromosomal karyotype analysis and BACs-on-Beads assay].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Jun;35(3):357-360
    Prenatal Diagnose Center of Xinjiang Maternal and Child Health Hospital, Urumuqi, Xinjiang 830000, China.
    Objective: To assess the application value in prenatal diagnosis using karyotype analysis combined with BACs-on-Beads (BoBs) assay.

    Methods: Nine hundred sixty five pregnant women were subjected to amniocentesis, chromosomal karyotype analysis and detection of BoBs were employed simultaneously for abnormal number of chromosomes and 9 chromosome microdeletion syndrome in prenatal diagnosis.

    Results: Fifty cases common chromosome aneupoidies were successfully detected by both karyotype analysis and BoBs which included 31 cases of trisomy 21,10 cases of trisomy 18 and 9 cases with sex chromosome abnormality. Read More

    Gene expression profiling in the developing secondary palate in the absence of Tbx1 function.
    BMC Genomics 2018 Jun 4;19(1):429. Epub 2018 Jun 4.
    Centre for Craniofacial Development and Regeneration, King's College London Dental Institute, Floor 27, Guy's Tower, London, SE1 9RT, UK.
    Background: Microdeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate. Amongst the genes within this region, TBX1 is a major candidate for many of these developmental defects. Targeted deletion of Tbx1 in the mouse has provided significant insight into the function of this transcription factor during early development of the cardiac and pharyngeal systems. Read More

    Syndromes with aortic involvement: pictorial review.
    Cardiovasc Diagn Ther 2018 Apr;8(Suppl 1):S71-S81
    Department of Radiology, Stanford University School of Medicine, Stanford, CA, USA.
    A variety of syndromes are associated with thoracoabdominal aortic pathologies. While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an underlying syndrome. Similarly, patients with a known syndrome require close monitoring in anticipation of future aortic disease. Read More

    Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization.
    J Matern Fetal Neonatal Med 2018 Jun 13:1-4. Epub 2018 Jun 13.
    a Medgenome Labs Ltd. , Narayana Nethralaya , Bangalore , India.
    Introduction: Noninvasive prenatal testing (NIPT) is a reliable screening method for fetal aneuploidy detection of trisomy 18, 13, 21 along with few sex chromosome abnormalities monosomy X, XXX, XXY (Klinefelter), XYY (Jacob) syndromes and certain microdeletions which include cri-du-chat, DiGeorge, 1p36, Angelman, and Prader-Willi syndromes in comparison to the available screening methods. Prenatal screening of Turners syndrome is possible by ultrasound in certain conditions only. Recently benefits of early detection and treatment of Turners syndrome has been emphasized, enforcing on accurate and early screening prenatally. Read More

    The effects of aberrant expression of LncRNA DGCR5/miR-873-5p/TUSC3 in lung cancer cell progression.
    Cancer Med 2018 May 23. Epub 2018 May 23.
    Department of Radiation Oncology, Shandong Cancer Hospital and Institute, Shandong Cancer Hospital Affiliated to Shandong University, Shandong Academy of Medical Sciences, Jinan, China.
    Lung cancer is the most common cause of cancer-related mortality worldwide, and nonsmall cell lung cancer (NSCLC) accounts for 80% of all pulmonary carcinomas. Recently, long noncoding RNAs (lncRNAs) have been paid attention for exploring treatment of various diseases. Upregulation of DiGeorge syndrome critical region gene 5 (DGCR5) predicts better lung squamous cell carcinoma prognosis; therefore, we explore the role of DGCR5 in lung cancer in our present study. Read More

    Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.
    Am J Med Genet A 2018 May 19. Epub 2018 May 19.
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
    Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Read More

    Airway Anomalies in Patients With 22q11.2 Deletion Syndrome: A 5-Year Review.
    Ann Otol Rhinol Laryngol 2018 Jun 7;127(6):384-389. Epub 2018 May 7.
    2 Department of Otolaryngology, Children's Mercy Hospital, Kansas City, Missouri, USA.
    Objectives: To characterize the frequency of airway anomalies in patients with 22q11.2 deletion syndrome (22q11DS).

    Methods: Retrospective review of patients with 22q11DS who had undergone microlaryngoscopy/bronchoscopy (MLB) for aerodigestive symptoms at a tertiary care children's hospital from 2011 to 2016. Read More

    The rarest aortic arch anomaly a case report of asymptomatic isolation of the subclavian artery.
    Images Paediatr Cardiol 2017 Apr-Jun;19(2):9-12
    Department of Paediatrics, Mater Dei Hospital, Malta.
    We present a rare case of isolated right subclavian artery arising from a right-sided patent arterial duct in a patient with DiGeorge syndrome, diagnosed on cardiac CT, along with potential complications and management approaches. Read More

    Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
    Hum Mol Genet 2018 05 2. Epub 2018 May 2.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
    The seventeen genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11. Read More

    Role of DiGeorge syndrome critical region gene 9, a long noncoding RNA, in gastric cancer.
    Onco Targets Ther 2018 19;11:2259-2267. Epub 2018 Apr 19.
    Department of Medical Oncology, The Affiliated Hospital of Medical School of Ningbo University, Ningbo, People's Republic of China.
    Introduction: Long non-coding RNAs (lncRNAs) regulate and influence cancer cell development and tumor formation. However, the role for lncRNAs in gastric cancer has not been fully established. In this study, , a lncRNA, was significantly upregulated in gastric cancer cell lines. Read More

    DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy.
    J Pediatr Neurosci 2017 Oct-Dec;12(4):344-345
    Department of Pediatric Neurology, Faculty of Medicine, Selcuk University, Konya, Turkey.
    DiGeorge syndrome (DGS) is the most common microdeletion syndrome. The phenotype of DGS is highly variable involving facial, velopharyngeal, cardiac, immunologic, endocrinal, and neuropsychiatric abnormalities. Although neural tube defects (NTDs) have not been described as components of DGS in standard pediatric textbooks, there have been a few case reports of DGS with NTDs. Read More

    DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients.
    Wien Klin Wochenschr 2018 Apr 18;130(7-8):283-287. Epub 2018 Apr 18.
    Department of Psychiatry and Psychotherapy, Clinical Department of General Psychiatry, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
    DiGeorge syndrome or 22q11.2 deletion syndrome is one of the most common genetic microdeletion syndromes in humans. In addition to physical manifestations, DiGeorge syndrome is associated with a high prevalence of psychiatric disorders, such as intellectual disability, schizophrenia and attention-deficit/hyperactivity disorder. Read More

    Preoperative Physiology, Imaging, and Management of Interrupted Aortic Arch.
    Semin Cardiothorac Vasc Anesth 2018 Apr 1:1089253218770198. Epub 2018 Apr 1.
    1 Boston Children's Hospital, Boston, MA, USA.
    Interrupted aortic arch (IAA) is a rare form of critical neonatal heart disease in which there is lack of continuity between the ascending aorta and the descending thoracic aorta. In the absence of prenatal diagnosis, patients with IAA present in shock when the patent ductus arteriosus closes. Diagnosis can generally be made by echocardiography, and initiation of prostaglandin E1 infusion allows for adequate lower body perfusion prior to surgical repair. Read More

    Hypocalcaemia in an adult: the importance of not overlooking the cause.
    BMJ Case Rep 2018 Apr 5;2018. Epub 2018 Apr 5.
    Department of Internal Medicine, Setúbal Hospital Center, Setúbal, Portugal.
    A 58-year-old male patient was admitted at the São Bernardos's Hospital (Setúbal, Portugal) with generalised muscle spasms, dyspnoea, laryngospasm and bronchospasm in the context of severe hypocalcaemia. Despite efforts to correct serum calcium, it remained below average, leading to question the true cause of hypocalcaemia. Low parathyroid hormone and 25-hydroxyvitamin D, along with facial anomalies, palate defect and cognitive impairment with concomitant psychiatric disorder led to a suspicion of a DiGeorge/velocardiofacial/22q11. Read More

    The Combinational Use of CRISPR/Cas9 and Targeted Toxin Technology Enables Efficient Isolation of Bi-Allelic Knockout Non-Human Mammalian Clones.
    Int J Mol Sci 2018 Apr 4;19(4). Epub 2018 Apr 4.
    Section of Gene Expression Regulation, Frontier Science Research Center, Kagoshima University, Kagoshima 890-8544, Japan.
    Recent advances in genome editing systems such as clustered regularly interspaced short palindromic repeats/CRISPR-associated protein-9 nuclease (CRISPR/Cas9) have facilitated genomic modification in mammalian cells. However, most systems employ transient treatment with selective drugs such as puromycin to obtain the desired genome-edited cells, which often allows some untransfected cells to survive and decreases the efficiency of generating genome-edited cells. Here, we developed a novel targeted toxin-based drug-free selection system for the enrichment of genome-edited cells. Read More

    Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
    Am J Med Genet A 2018 Apr;176(4):936-944
    The Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada.
    Clinical molecular testing has been available for 22q11.2 deletion syndrome (22q11.2DS) for over two decades yet under-recognition and diagnostic delays are common. Read More

    Characteristics of prenatally detected right aortic arch cases in a single institution.
    J Obstet Gynaecol 2018 Mar 19:1-4. Epub 2018 Mar 19.
    a Department of Obstetrics and Gynaecology , School of Medicine, Eskisehir Osmangazi University , Eskisehir , Turkey.
    This study aimed to elucidate the diagnostic process, the associated anomalies and the perinatal outcomes of right aortic arch (RAA) in a group of low-risk patients. The obstetric imaging database and digital patient files were reviewed between January 2015 and June 2016. There were 12 RAA cases detected prenatally. Read More

    Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice.
    Arq Bras Cardiol 2018 Jan;110(1):84-90
    Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS - Brazil.
    Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet.

    Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Read More

    Attentional functioning in individuals with 22q11 deletion syndrome: insight from ERPs.
    J Neural Transm (Vienna) 2018 Jul 8;125(7):1043-1052. Epub 2018 Mar 8.
    Department of Neurology and Psychiatry, Sapienza University of Rome, Viale dell'Università 30, 00185, Rome, Italy.
    The 22q11 deletion syndrome (22q11DS), or DiGeorge syndrome (DG), is one of the most common genetic deletion syndromes. DG also carries a high risk for psychiatric disorders, with learning disabilities frequently being reported. Impairments in specific cognitive domains, such as executive functioning and attention, have also been described. Read More

    22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.
    Pediatr Cardiol 2018 Jun 8;39(5):906-910. Epub 2018 Mar 8.
    Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, 34th and Civic Center Blvd, Suite 8NW35, Philadelphia, PA, 19104, USA.
    Deletion of 22q11.2 (del22q11) is associated with adverse outcomes in patients with tetralogy of Fallot (TOF). We sought to investigate its contribution to perioperative outcome in patients with a severe form of TOF characterized by pulmonary atresia (PA) or severe pulmonary stenosis (PS) and major aortopulmonary collateral arteries (MAPCAS). Read More

    Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.
    Medicine (Baltimore) 2018 Feb;97(8):e9936
    Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University.
    Rationale: 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Read More

    Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.
    Cytogenet Genome Res 2018 17;154(1):20-29. Epub 2018 Feb 17.
    Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
    DiGeorge syndrome (DGS) is a genetic disorder known as a clinically variable syndrome with over 180 associated phenotypic features. It is caused by a common human deletion in the 22q11.2 chromosomal region and currently is affecting approximately 1 in 4,000 individuals. Read More

    Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis.
    J Heart Lung Transplant 2018 Jun 31;37(6):749-754. Epub 2018 Jan 31.
    Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. Electronic address:
    Background: The purpose of this study was to describe the prevalence, characteristics, and outcomes in pediatric patients with chromosomal anomalies (CA) undergoing orthotopic heart transplantation (OHT).

    Methods: A query of the database of the Pediatric Health Information System, a large administrative and billing database of 43 tertiary children's hospitals, was performed for the Years 2004 to 2016. Pediatric patients who received OHT were analyzed based on presence and type of CA. Read More

    22q11 Deletion Syndrome with Vascular Anomalies.
    J Clin Imaging Sci 2018 22;8. Epub 2018 Jan 22.
    Department of Radiology, Rutgers New Jersey Medical School, Newark, NJ, USA.
    DiGeorge syndrome, also termed 22q11.2 deletion syndrome, represents a spectrum of disorders that include thymic aplasia/hypoplasia, parathyroid aplasia/hypoplasia, conotruncal vascular anomalies, and velocardiofacial (Shprintzen) syndrome. This case report describes a novel constellation of cardiovascular anomalies in a 31-year-old patient with 22q11. Read More

    Deletion of DGCR8 in VSMCs of adult mice results in loss of vascular reactivity, reduced blood pressure and neointima formation.
    Sci Rep 2018 Jan 23;8(1):1468. Epub 2018 Jan 23.
    Departments of Pathology, The University of Tennessee Health Science Center, 19 S. Manassas St., Memphis, TN, 38163, USA.
    DiGeorge syndrome chromosomal region 8 (DGCR8), a double-stranded-RNA-binding protein, participates in the miRNA biogenesis pathway and contributes to miRNA maturation by interacting with the RNAase III enzyme Drosha in cell nuclei. To investigate the role of DGCR8 in vascular smooth muscle cells (VSMCs) at the postnatal stages, we generated tamoxifen-inducible VSMC specific knockout (iKO) mice by crossing DGCR8 with VSMC specific tamoxifen-inducible Cre transgenic mice SMA-Cre-ER. DGCR8iKO mice display reduced body weight one month following tamoxifen treatment and died around 3 months. Read More


    microRNAs associated with early neural crest development in Xenopus laevis.
    BMC Genomics 2018 01 18;19(1):59. Epub 2018 Jan 18.
    School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, NR4 7TJ, UK.
    Background: The neural crest (NC) is a class of transitory stem cell-like cells unique to vertebrate embryos. NC cells arise within the dorsal neural tube where they undergo an epithelial to mesenchymal transition in order to migrate and differentiate throughout the developing embryo. The derivative cell types give rise to multiple tissues, including the craniofacial skeleton, peripheral nervous system and skin pigment cells. Read More

    Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.
    Am J Med Genet A 2018 Jan 17. Epub 2018 Jan 17.
    The Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. Read More

    Effects of perinatal fluoride exposure on the expressions of miR-124 and miR-132 in hippocampus of mouse pups.
    Chemosphere 2018 Apr 8;197:117-122. Epub 2018 Jan 8.
    Shanxi Key Laboratory of Ecological Animal Science and Environmental Veterinary Medicine, College of Animal Science and Veterinary Medicine, Shanxi Agricultural University, Taigu, Shanxi, 030801, China. Electronic address:
    To investigate the effects of perinatal fluoride exposure on learning and memory ability of mouse offspring, ICR female mice were received different doses of sodium fluoride (0, 25, 50, 100 mg/L NaF) from pregnant day 7 to lactational day 21. Pups were exposed to fluoride through the cord blood and breast milk. Open field test showed that compared to the control group, perinatal fluoride exposure significantly decreased the number of entries into the center zone in 100 mg/L NaF group. Read More

    The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study.
    Eur Psychiatry 2018 Feb 10;48:20-26. Epub 2018 Jan 10.
    Sackler Faculty of Medicine, Tel Aviv University, Israel; The Sagol School of Neuroscience, Tel Aviv University, Israel; The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel. Electronic address:
    Background: The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. Read More

    Characteristics and outcomes of children with ductal-dependent congenital heart disease and esophageal atresia/tracheoesophageal fistula: A multi-institutional analysis.
    Surgery 2018 Apr 8;163(4):847-853. Epub 2018 Jan 8.
    Section of Cardiology, Department of Pediatrics, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA. Electronic address:
    Background: Extracardiac birth defects are associated with worse outcomes in congenital heart disease (CHD). The impact of esophageal atresia/trachea-esophageal fistula (EA/TEF) on outcomes after surgery for ductal-dependent CHD is unknown.

    Methods: Retrospective matched cohort study using the Pediatric Health Information System database from 07/2004 to 06/2015. Read More

    The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis.
    Biol Psychiatry 2018 Apr 21;83(8):692-706. Epub 2017 Nov 21.
    Department of Psychiatry, University of Geneva Medical School, Geneva, Switzerland; Department of Basic Neurosciences, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, University of Geneva Medical Center, Geneva, Switzerland. Electronic address:
    Background: Alterations in early steps of cortical circuit assembly are thought to play a critical role in vulnerability to schizophrenia (SZ), but the pathogenic impact of SZ-risk mutations on corticogenesis remains to be determined. DiGeorge syndrome critical region 2 (DGCR2) is located in the 22q11.2 locus, whose deletion is a major risk factor for SZ. Read More

    Congenital respiratory tract disorders in 22q11.2 deletion syndrome.
    Int J Pediatr Otorhinolaryngol 2018 Jan 20;104:1-4. Epub 2017 Oct 20.
    Department of Otorhinolaryngology - Head and Neck Surgery, University Medical Center Utrecht, Utrecht University, The Netherlands; Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands.
    Objective: Respiratory tract disorders have been reported in patients with 22q11.2 deletion syndrome, however infrequently. This study describes the respiratory tract disorders encountered in a cohort of 278 patients with 22q11. Read More

    Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.
    PLoS Genet 2017 12 27;13(12):e1007142. Epub 2017 Dec 27.
    Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, United States of America.
    Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here, we introduce an integrated approach that combines the rare variant association test with gene network and phenotype information to identify risk genes implicated by rare variants for human complex diseases. Our data integration method follows a 'discovery-driven' strategy without relying on prior knowledge about the disease and thus maintains the unbiased character of genome-wide association studies. Read More

    Successful Prediction of a Left Nonrecurrent Laryngeal Nerve in a Patient With Right-Sided Aorta and Aberrant Left Subclavian Artery.
    Ann Otol Rhinol Laryngol 2018 Feb 4;127(2):124-127. Epub 2017 Dec 4.
    1 Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
    Background: Left nonrecurrent laryngeal nerve (LNRLN) is an extremely rare anatomic variant. The development of such anatomic variation requires the regression of both the fourth (aortic arch) and sixth (ductus arteriosus, DA) arches on the left side. Preoperative prediction of this variant is difficult but might reduce risk of nerve injury. Read More

    Characteristic Morphologies of the Bicuspid Aortic Valve in Patients with Genetic Syndromes.
    J Am Soc Echocardiogr 2018 Feb 28;31(2):194-200. Epub 2017 Nov 28.
    Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota; Department of Medicine/Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota. Electronic address:
    Background: In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. Read More

    Pediatric healthcare costs for patients with 22q11.2 deletion syndrome.
    Mol Genet Genomic Med 2017 11 12;5(6):631-638. Epub 2017 Aug 12.
    Natera, Inc., San Carlos, California.
    Background: The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case. Read More

    Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.
    Am J Med Genet A 2017 Nov 21. Epub 2017 Nov 21.
    Department of Orthopaedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
    The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome with an estimated prevalence of 1:4,000 live births. Read More

    Quantifying indices of short- and long-range white matter connectivity at each cortical vertex.
    PLoS One 2017 15;12(11):e0187493. Epub 2017 Nov 15.
    Developmental Imaging and Psychopathology Laboratory, University of Geneva School of medicine, Geneva, Switzerland.
    Several neurodevelopmental diseases are characterized by impairments in cortical morphology along with altered white matter connectivity. However, the relationship between these two measures is not yet clear. In this study, we propose a novel methodology to compute and display metrics of white matter connectivity at each cortical point. Read More

    Detection of an Underlying 22q11.2 Duplication in a Female Neonate With Trisomy 18.
    Lab Med 2017 Nov;48(4):372-375
    Department of Pathology, University of Texas Medical Branch, Galveston, Texas.
    Current guidelines indicate that in patients with developmental disabilities or congenital anomalies, chromosomal microarray (CMA) is a first-tier diagnostic test. However, for patients with obvious chromosomal syndromes such as trisomy 13, 18, and 21, G-banded karyotyping is still recommended over CMA for establishing a diagnosis. In the case presented herein, a female neonate was suspected of having trisomy 18 based on pre- and postnatal evaluations. Read More

    LncRNA DGCR5 promotes lung adenocarcinoma (LUAD) progression via inhibiting hsa-mir-22-3p.
    J Cell Physiol 2018 May 18;233(5):4126-4136. Epub 2017 Dec 18.
    Department of Respiratory Medicine, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
    Long non-coding RNAs (lncRNAs) serve critical roles in the pathogenesis of various cancers, including lung adenocarcinoma (LUAD). Herein, in this study, we aimed to investigate the biological and clinical significance of lncRNA DiGeorge syndrome critical region gene 5 (DGCR5) in LUAD. It was observed that DGCR5 was upregulated in LUAD tissues and LUAD cell lines. Read More

    Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the Locus on 5q14.3.
    Circ Cardiovasc Genet 2017 Oct;10(5)
    From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).
    Background: The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. Read More

    Comparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome.
    J Intellect Disabil Res 2017 Dec 8;61(12):1083-1093. Epub 2017 Oct 8.
    The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
    Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Read More

    NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL.
    Rev Paul Pediatr 2017 Jan-Mar;35(1):25-32
    Departamento de Imunologia, Universidade de São Paulo (USP), São Paulo, SP, Brasil.
    Objective: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil.

    Methods: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR. Read More

    Epilepsy in 22q11.2 Deletion Syndrome: A Case Series and Literature Review.
    Pediatr Neurol 2017 Nov 26;76:86-90. Epub 2017 Aug 26.
    Department of Pediatrics, Division of Pediatric Neurology, University of Tennessee Health Science Center, Memphis, Tennessee; Neuroscience Institute & Le Bonheur Comprehensive Epilepsy Program, Le Bonheur Children's Hospital, Memphis, Tennessee.
    Background: The 22q11.2 deletion syndrome affects multiple organ systems, and the neurological manifestations are an important aspect of this disorder. Many are aware of cardiac anomalies associated with this uncommon genetic disorder. Read More

    Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
    Am J Hum Genet 2017 Oct 28;101(4):616-622. Epub 2017 Sep 28.
    Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium. Electronic address:
    Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11. Read More

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