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    Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.
    Cytogenet Genome Res 2018 Feb 17. 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 Jan 31. 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 DGCR8with 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 Jan 8. 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 2017 Nov 21. 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

    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

    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 theLocus 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

    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

    The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.
    Am J Med Genet A 2017 Sep 22. Epub 2017 Sep 22.
    Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    The 22q11.2 deletion syndrome (DS) is associated with variable phenotypic expression as findings range from severely affected individuals with the classical triad of DiGeorge and velocardiofacial syndromes, including congenital heart disease, immunodeficiency, hypocalcemia, and palatal abnormalities, to subtly affected adults who only come to attention following the diagnosis of a more severely affected child. The multiple manifestations can affect all organ systems, including the hematologic system resulting in baseline lower platelet counts for individuals with 22q11. Read More

    Treatment of Comorbid Bipolar Disorder Improves Disabilities and Neuropsychological Functioning in DiGeorge Syndrome: A Case Report.
    J Clin Psychopharmacol 2017 Dec;37(6):736-738
    McGill Group for Suicide Studies Douglas Mental Health University Institute Department of Psychiatry McGill University, Montréal, Québec Canada Department of Psychiatry Sainte Marguerite Hospital Assistance Publique Hôpitaux de Marseille Marseille, France Department of Psychiatry Sainte Marguerite Hospital Assistance Publique Hôpitaux de Marseille Marseille, France and Fondation FondaMental Créteil, France Aix-Marseille University CNRS, CRN2M UMR 7286 Marseille, France and Fondation FondaMental Créteil, France Department of Medical Genetics Assistance Publique-Hôpitaux de Marseille and Aix Marseille Université INSERM GMGF UMR_S 910 Marseille, France Department of Psychiatry Sainte Marguerite Hospital Assistance Publique Hôpitaux de Marseille Marseille, France and Fondation FondaMental Créteil, France McGill Group for Suicide Studies Douglas Mental Health University Institute Department of Psychiatry McGill University, Montréal Québec, Canada Department of Psychiatry Sainte Marguerite Hospital Assistance Publique Hôpitaux de Marseille Marseille, France Aix-Marseille University CNRS, CRN2M UMR 7286 Marseille, France and Fondation FondaMental Créteil, France

    Chromosomal Abnormalities Affect the Surgical Outcome in Infants with Hypoplastic Left Heart Syndrome: A Large Cohort Analysis.
    Pediatr Cardiol 2018 Jan 18;39(1):11-18. Epub 2017 Sep 18.
    Pediatric Cardiology, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
    Patients with hypoplastic left heart syndrome (HLHS) can have associated genetic abnormalities. This study evaluated the incidence of genetic abnormalities among infants with HLHS and the short-term outcomes of this population during the first hospitalization. This is a retrospective analysis of the multi-center Pediatric Heath Information System database of infants with HLHS who underwent Stage I Norwood, Hybrid, or heart transplant during their first hospitalization from 2004 through 2013. Read More

    Expression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors.
    Lab Invest 2017 Dec 18;97(12):1488-1499. Epub 2017 Sep 18.
    Department of Biomedical Sciences for Health, Endocrinology Service, Laboratory of Experimental Endocrinology, University of Milan, IRCCS Istituto Ortopedico Galeazzi, Milan, Italy.
    Transcription factors active in embryonic parathyroid cells can be maintained in adult parathyroids and be involved in tumorigenesis. TBX1, the candidate gene of 22q11.2-DiGeorge syndrome, which includes congenital hypoparathyroidism, is involved in parathyroid embryogenesis. Read More

    Appendicitis Caused by Primary Varicella Zoster Virus Infection in a Child with DiGeorge Syndrome.
    Case Rep Pediatr 2017 16;2017:6708046. Epub 2017 Aug 16.
    Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
    Introduction: Chickenpox is caused by varicella zoster virus (VZV). Although predominantly a mild disease, it can cause considerable morbidity and in rare occasions even mortality in healthy children as well as increased morbidity and mortality in immunocompromised patients. The aetiology of appendicitis is largely unknown but is thought to be multifactorial. Read More

    Impaired hippocampal place cell dynamics in a mouse model of the 22q11.2 deletion.
    Nat Neurosci 2017 Nov 4;20(11):1612-1623. Epub 2017 Sep 4.
    Department of Neuroscience, Columbia University, New York, New York, USA.
    Hippocampal place cells represent the cellular substrate of episodic memory. Place cell ensembles reorganize to support learning but must also maintain stable representations to facilitate memory recall. Despite extensive research, the learning-related role of place cell dynamics in health and disease remains elusive. Read More

    Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots.
    J Paediatr Child Health 2018 Jan 1;54(1):14-19. Epub 2017 Sep 1.
    Immunology Laboratory, Laboratory Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
    Aim: Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency and is fatal in infancy if untreated. As early diagnosis is associated with improved outcomes, SCID is an ideal condition to consider for inclusion in a newborn screening (NBS) programme in Australia. In this feasibility study, we evaluated the EnLite Neonatal TREC kit for detection of T-cell receptor excision circles (TRECs) from NBS dried blood spots for the identification of known SCID patients in Victoria. Read More

    Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
    Am J Psychiatry 2017 11 28;174(11):1054-1063. Epub 2017 Jul 28.
    From the Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto; the Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto; the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto; the Department of Psychiatry, University of Toronto, Toronto; the Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; the Centre for Applied Genomics and Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto; the Medical Genetics Residency Training Program, University of Toronto, Toronto; the Department of Psychiatry and Psychology, Maastricht University, Maastricht, the Netherlands; the Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; the Departments of Pediatrics and of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Centre for Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium; the Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales; the Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin; the Department of Child and Adolescent Psychiatry, King's College London; the Department of Psychiatry, Tel Aviv University, Tel Aviv, Israel; the Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles; Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, Geneva; the Department of Psychiatry and Behavioral Sciences, Upstate Medical University, State University of New York, Syracuse; Département de Génétique Médicale, Centre Hospitalier Universitaire de Marseille - Hôpital de la Timone, Marseilles, France; the Department of Pediatrics, Duke University, Durham, N.C.; the Department of Psychology, University of Newcastle, Newcastle, Australia; the Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands; the Department of Human Genetics, Emory University, Atlanta; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; the Department of Psychiatry and Behavioral Sciences, UC Davis, Sacramento, Calif.; Molecular Genetics and McLaughlin Centre, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto; the Department of Genetics, Albert Einstein College of Medicine, Bronx, N.Y.; and Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto.
    Objective: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. Read More

    Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.
    Expert Rev Mol Diagn 2017 Sep 3;17(9):861-870. Epub 2017 Aug 3.
    b Department of Pediatrics , Sapienza University , Rome , Italy.
    Introduction: Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Understanding the genetic background of syndromic CHDs allowed a better characterization of the genetic basis of non-syndromic CHDs. Read More

    Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot.
    J Pediatr 2017 Oct 19;189:162-168. Epub 2017 Jul 19.
    Division of Cardiology, Northwestern University Feinberg School of Medicine and Lurie Children's Hospital, Chicago, IL.
    Objective: To identify mediators of health status and quality of life (QOL) in children and adolescents aged 8-18 years old following surgical repair for tetralogy of Fallot (TOF), including resource use, exercise performance, and 22q11.2 deletion status.

    Study Design: We performed a corollary study to a cross-sectional analysis of subjects following repair for TOF that completed cardiac magnetic resonance imaging, cardiopulmonary exercise tests, and instruments assessing health status and QOL. Read More

    A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome.
    J Dent Res 2017 Nov 21;96(12):1386-1391. Epub 2017 Jul 21.
    1 Department of Oral Health Sciences - Orthodontics, KU Leuven & Dentistry, University Hospitals Leuven, Leuven, Belgium.
    The 22q11.2 deletion syndrome (22q11.2DS) is one of the most frequent microdeletion syndromes and presents with a highly variable phenotype. Read More

    Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus.
    Ann Pediatr Endocrinol Metab 2017 Jun 28;22(2):133-138. Epub 2017 Jun 28.
    Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
    Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. Read More

    Altered neurobiological function of brainstem hypoglossal neurons in DiGeorge/22q11.2 Deletion Syndrome.
    Neuroscience 2017 Sep 4;359:1-7. Epub 2017 Jul 4.
    Department of Pharmacology and Physiology, George Washington University, School of Medicine and Health Sciences, Washington, DC, USA; Institute for Neuroscience, The George Washington University School of Medicine and Health Sciences, USA. Electronic address:
    DiGeorge/22q11.2 Deletion Syndrome (22q11DS) is a common genetic microdeletion syndrome that underlies several neurodevelopmental disorders including autism, attention deficit/hyperactivity disorder, and schizophrenia. In addition to cognitive impairments, those with 22q11DS have disrupted feeding and swallowing from birth onward. Read More

    The Impact of 22q11.2 Deletion Syndrome on Surgical Repair Outcomes of Conotruncal Cardiac Anomalies.
    Ann Thorac Surg 2017 Nov 29;104(5):1597-1604. Epub 2017 Jun 29.
    Division of Cardiothoracic Surgery, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia.
    Background: We aim to describe the impact of 22q11.2 deletion syndrome (22q11DS) on clinical characteristics, postoperative course, and early and late outcomes of neonates undergoing surgery for conotruncal anomalies.

    Methods: A retrospective review was performed (2002 to 2012) of 224 neonates who underwent surgery for interrupted aortic arch (n = 67), truncus arteriosus (n = 85), or ductal-dependent pulmonary atresia and ventricular septal defect (n = 72). Read More

    Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.
    BMC Ophthalmol 2017 Jun 28;17(1):107. Epub 2017 Jun 28.
    Eye Unit, San Paolo Hospital, University of Milan, Milan, Italy.
    Background: We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).

    Case Presentation: A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. Read More

    Hypothyroidism associated with parathyroid disorders.
    Best Pract Res Clin Endocrinol Metab 2017 03 15;31(2):161-173. Epub 2017 Apr 15.
    Endocrinology Service, Department of Biomedical Sciences, University of Milan, IRCCS Istituto Ortopedico Galeazzi, Milan, Italy. Electronic address:
    Hypothyroidism may occur in association with congenital parathyroid disorders determining parathyroid hormone insufficiency, which is characterized by hypocalcemia and concomitant inappropriately low secretion of parathormone (PTH). The association is often due to loss of function of genes common to thyroid and parathyroid glands embryonic development. Hypothyroidism associated with hypoparathyroidism is generally mild and not associated with goiter; moreover, it is usually part of a multisystemic involvement not restricted to endocrine function as occurs in patients with 22q11 microdeletion/DiGeorge syndrome, the most frequent disorders. Read More

    The immune deficiency of chromosome 22q11.2 deletion syndrome.
    Am J Med Genet A 2017 Sep 19;173(9):2366-2372. Epub 2017 Jun 19.
    The Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, Philadelphia.
    The syndrome originally described by Dr. Angelo DiGeorge had immunodeficiency as a central component. When a 22q11. Read More

    Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
    J Clin Endocrinol Metab 2017 Aug;102(8):3029-3039
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 171 77, Sweden.
    Context: Only a few genetic causes for childhood obesity have been identified to date. Copy number variants (CNVs) are known to contribute to obesity, both syndromic (15q11.2 deletions, Prader-Willi syndrome) and nonsyndromic (16p11. Read More

    [Phenotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 deletion encompassing the CRKL gene].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Jun;34(3):393-397
    Fetal Medicine Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China.
    Objective: To delineate the phenotypic characteristics of 22q11.2 deletion syndrome and the role of CRKL gene in the pathogenesis of cardiac abnormalities.

    Methods: G-banded karyotyping, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization (FISH) were performed on a fetus with tetralogy of Fallot detected by ultrasound. Read More

    Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
    J Clin Immunol 2017 Jul 24;37(5):476-485. Epub 2017 May 24.
    The 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Purpose: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Read More

    Pharmacopsychiatry 2017 Jul 16;50(4):162-163. Epub 2017 May 16.
    1st Department Psychiatry, Aiginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
    In the recent study by Verhoeven and Egger, 2015 and the recent letter to the editor by Boot et al. 2015 an emphasis is given to the best possible pharmacological treatment of 22q11-2 Deletion-Syndrome related psychoses. We would like to present the case of a 23-year old Cypriot patient with 22q11. Read More

    Graves' Disease in Pediatric and Elderly Patients with 22q11.2 Deletion Syndrome.
    Intern Med 2017 15;56(10):1169-1173. Epub 2017 May 15.
    The First Department of Medicine, Wakayama Medical University, Japan.
    22q11.2 Deletion Syndrome (22qDS) is often complicated by autoimmune diseases. To clarify the causal relationship, we examined the lymphocyte subset distribution and the human leucocyte antigen (HLA) in two female patients (one child and an elderly) with Graves' disease (GD) and 22qDS. Read More

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