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    Germline-specific dgcr8 knockout in zebrafish using a BACK approach.
    Cell Mol Life Sci 2017 Feb 21. Epub 2017 Feb 21.
    School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, China.
    Zebrafish is an important model to study developmental biology and human diseases. However, an effective approach to achieve spatial and temporal gene knockout in zebrafish has not been well established. In this study, we have developed a new approach, namely bacterial artificial chromosome-rescue-based knockout (BACK), to achieve conditional gene knockout in zebrafish using the Cre/loxP system. Read More

    Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.
    Adv Biomed Res 2016 27;5:201. Epub 2016 Dec 27.
    Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Surgery, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
    Background: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11. Read More

    Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations.
    Brain Dev 2017 Feb 12. Epub 2017 Feb 12.
    Metabolic Unit, Hospital de Dona Estefânia, Lisbon, Portugal.
    Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment. Read More

    Right Aortic Arch with a Retroesophageal Left Subclavian Artery and an Anomalous Origin of the Pulmonary Artery from the Aorta.
    Korean J Thorac Cardiovasc Surg 2017 Feb 5;50(1):44-46. Epub 2017 Feb 5.
    Department of Thoracic and Cardiovascular Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine.
    We report the case of a newborn with a rare anatomic variation: a right aortic arch with a retroesophageal left subclavian artery and an anomalous origin of the pulmonary artery from the aorta. This variation was diagnosed using echocardiography and computed tomography, and we treated the condition surgically. Read More

    Afebrile Seizures as Initial Symptom of Hypocalcemia Secondary to Hypoparathyroidism.
    J Neurosci Rural Pract 2016 Dec;7(Suppl 1):S117-S119
    Department of Pediatric, General Hospital of Veroia, Pediatric Clinic, Veroia, Greece.
    Hypocalcemia is rare in childhood and caused, among other conditions, by hypoparathyroidism. DiGeorge syndrome is the most common cause of hypoparathyroidism in childhood. Presentation of a rare cause of hypocalcemia in childhood and the necessity of measuring serum electrolyte levels in patients presenting with afebrile seizures. Read More

    The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency.
    Turk Pediatri Ars 2016 Dec 1;51(4):186-192. Epub 2016 Dec 1.
    Department of Peditarics, Division of Allergy and Immunology, Marmara University Pendik Training and Research Hospital, İstanbul, Turkey.
    Aim: Although the association between primary immunodeficiency and autoimmunity is already well-known, it has once again become a topic of debate with the discovery of newly-defined immunodeficiencies. Thus, investigation of the mechanisms of development of autoimmunity in primary immunodefficiency and new target-specific therapeutic options has come to the fore. In this study, we aimed to examine the clinical findings of autoimmunity, autoimmunity varieties, and treatment responses in patients who were genetically diagnosed as having primary immunodeficiency. Read More

    Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
    N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.
    From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).
    Background The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. Read More

    Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome.
    Neural Plast 2016 26;2016:5836143. Epub 2016 Dec 26.
    School of Life Sciences, Tsinghua University, Beijing, China.
    The patients with DiGeorge syndrome (DGS), caused by deletion containing dozens of genes in chromosome 22, often carry cardiovascular problem and hearing loss associated with chronic otitis media. Inside the deletion region, a transcription factor TBX1 was highly suspected. Furthermore, similar DGS phenotypes were found in the Tbx1 heterozygous knockout mice. Read More

    MicroRNA-processing Enzymes Are Essential for Survival and Function of Mature Retinal Pigmented Epithelial Cells in Mice.
    J Biol Chem 2017 Feb 19;292(8):3366-3378. Epub 2017 Jan 19.
    From the Departments of Pharmacology and
    Age-related macular degeneration (AMD) is a major cause of irreversible vision loss. The neovascular or "wet" form of AMD can be treated to varying degrees with anti-angiogenic drugs, but geographic atrophy (GA) is an advanced stage of the more prevalent "dry" form of AMD for which there is no effective treatment. Development of GA has been linked to loss of the microRNA (miRNA)-processing enzyme DICER1 in the mature retinal pigmented epithelium (RPE). Read More

    Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology.
    J Autism Dev Disord 2017 Jan 12. Epub 2017 Jan 12.
    Department of Psychology, University of New Orleans, 2000 Lakeshore Drive, New Orleans, LA, 70148, USA.
    Stress and anxiety have a negative impact on working memory systems by competing for executive resources and attention. Broad memory deficits, anxiety, and elevated stress have been reported in individuals with chromosome 22q11.2 deletion syndrome (22q11. Read More

    An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.
    Sci Rep 2017 Jan 6;7:40031. Epub 2017 Jan 6.
    Genetics of Male Fertility Group, Unitat de Biologia Cel·lular (Facultat de Biociències), Universitat Autònoma de Barcelona, 08193-Bellaterra (Cerdanyola del Vallès), Spain.
    DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. Read More

    Tbx1: Transcriptional and Developmental Functions.
    Curr Top Dev Biol 2017 1;122:223-243. Epub 2016 Sep 1.
    University of Salerno, Fisciano, Italy. Electronic address:
    Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7. Read More

    Outcomes of Truncus Arteriosus Repair in Children: 35 Years of Experience From a Single Institution.
    Semin Thorac Cardiovasc Surg 2016 Summer;28(2):500-511
    Department of Cardiac Surgery, Royal Children׳s Hospital, Melbourne, Australia; University of Melbourne, Melbourne, Australia; Murdoch Children׳s Research Institute, Melbourne, Australia. Electronic address:
    We evaluated the long-term outcomes following repair of truncus arteriosus (TA) from a single institution. We conducted a retrospective review of children (n = 171) who underwent TA repair between 1979 and 2014. Early mortality rate was 11. Read More

    Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression.
    Case Rep Psychiatry 2016 27;2016:1657691. Epub 2016 Nov 27.
    Department of Psychiatry, The Pennsylvania State University College of Medicine, Hershey, PA, USA.
    Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. Read More

    [Autoimmune disorder secondary to DiGeorge syndrome: a long-term follow-up case report and literature review].
    Beijing Da Xue Xue Bao 2016 Dec;48(6):1086-1089
    Department of Pediatric, Peking University First Hospital, Beijing 100034, China.
    DiGeorge syndrome is the most common chromosome microdeletion disease. The classical complications include congenital heart disease, hypothyroidism, immunodeficiency, facial abnormalities, and hypocalcemia. According to whether there is an absence or hypoplasia of the thymus, DiGeorge syndrome can be divided into two types, complete DiGeorge syndrome and partial DiGeorge syndrome. Read More

    22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report.
    Front Med (Lausanne) 2016 28;3:53. Epub 2016 Nov 28.
    Department of Gynecology and Obstetrics, HNE , Neuchâtel , Switzerland.
    Background: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system.

    History And Signs: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion. Read More

    Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports.
    Case Rep Pediatr 2016 10;2016:8013530. Epub 2016 Nov 10.
    Department of Pediatric Cardiology, Fukuoka Children's Hospital, Fukuoka, Japan.
    Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. Read More

    Otologic and Audiologic Outcomes in Pediatric Patients With Velo-Cardio-Facial (22q11 Deletion) Syndrome.
    Otol Neurotol 2017 Jan;38(1):73-78
    Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, Charleston, South Carolina.
    Objective: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS) and to compare these characteristics with patient demographics and other otologic factors.

    Study Design: Retrospective analysis of the AudGen Database.

    Setting: Tertiary academic referral center. Read More

    Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
    J Clin Immunol 2017 Jan 21;37(1):51-60. Epub 2016 Nov 21.
    Department of Clinical Immunology, Karolinska University Hospital Huddinge, SE-14186, Stockholm, Sweden.
    Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period, encompassing 58,834 children. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) were measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity. Diagnostic cutoff levels enabling identification of newborns with milder and reversible T and/or B cell lymphopenia were also evaluated. Read More

    Cardiac rehabilitation in an adolescent with Digeorge syndrome: a case report.
    Eur J Phys Rehabil Med 2016 Nov 18. Epub 2016 Nov 18.
    Department of Physical & Rehabilitation Medicine, Research Institute of Medical Sciences, Regional Cardiocerebrovascular Center, Center for Aging and Geriatrics, Chonnam National University Medical School & Hospital, Gwangju City, Republic of Korea -
    Background: Digeorge syndrome is a rare disease that has variable clinical symptoms resulting from 22q11 deletions, included cardiac abnormality, abnormal face and thymic aplasia, and cognitive impairment. There was a no reports regarding the efficiency of cardiac rehabilitation (CR) in patients with Digeorge syndrome with tetralogy of fallot.

    Case Report: A 15-year-old girl with DGS visited our CR center. Read More

    Otologic and audiologic findings in 22q11.2 deletion syndrome.
    Eur Arch Otorhinolaryngol 2017 Feb 11;274(2):765-771. Epub 2016 Nov 11.
    Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.
    Hearing loss is frequently present in the 22q11.2 deletion syndrome. Our aim was to describe the audiologic and otologic features of patients with 22q11. Read More

    The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths.
    Biol Psychiatry 2016 Sep 8. Epub 2016 Sep 8.
    Department of Psychiatry, Philadelphia, Pennsylvania; Department of Child and Adolescent Psychiatry, Philadelphia, Pennsylvania.
    Background: Chromosome 22q11.2 deletion syndrome (22q11DS) is a promising model for studying psychosis risk. Direct comparisons of psychosis features between 22q11DS and nondeleted (ND) individuals are limited by inconsistency and small samples. Read More

    Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome.
    J Dev Orig Health Dis 2016 Dec;7(6):616-625
    Department of Psychology,University of New Orleans,New Orleans,LA,USA.
    Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex developmental disorder with serious medical, cognitive and emotional symptoms across the lifespan. Read More

    [Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis].
    Neuropsychiatr 2016 Dec 7;30(4):223-226. Epub 2016 Nov 7.
    Klinische Abteilung für Sozialpsychiatrie, Universitätsklinik für Psychiatrie und Psychotherapie, Währinger Gürtel 18-20, 1090, Wien, Österreich.
    22q11.2 deletion syndrome (clinically also known as velocardiofacial or DiGeorge syndrome) is the most common human microdeletion syndrome and can be associated with a multitude of clinical features. In this article we report the case of a 22-year-old patient from Austria who was diagnosed with previously unknown 22q11. Read More

    Camptodactyly and the 22q11.2 deletion syndrome.
    Am J Med Genet A 2017 Feb 28;173(2):515-518. Epub 2016 Oct 28.
    Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine, University, of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
    We describe a 5-day-old male with minor facial anomalies, a congenital laryngeal web, severe laryngomalacia, and prominent fixed flexion of the proximal interphalangeal joints of digits 2 through 5 bilaterally. A whole genome SNP microarray analysis identified a 2.55 Mb interstitial deletion of 22q11. Read More

    Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.
    Mol Syndromol 2016 Sep 24;7(4):239-246. Epub 2016 Aug 24.
    Institute of Human Genetics, University Hospital and Clinics, Leipzig, Germany.
    Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. Read More

    Improvement in Neurocognitive Manifestations with Short-term Multidisciplinary Intervention in DiGeorge Syndrome.
    Indian Pediatr 2016 Sep;53(9):835-836
    Department of *Pediatrics, #Psychology and $Public Health, New Horizons Health and Research Foundation, Saira Mansion, Jay Prakash Nagar, Goregaon East, Mumbai, India. Correspondence to: Dr Samir Dalwai, Director, New Horizons Health and Research Foundation, Saira Mansion, JP Nagar, Goregaon (E), Mumbai, India
    Background: DiGeorge syndrome involves deletion of chromosomal region 22q11.2.

    Case Characteristics: 3-year-old girl presenting with speech delay showed defiant behaviour and sensory concerns. Read More

    Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database.
    Ann Thorac Surg 2016 Nov 17;102(5):1607-1614. Epub 2016 Jun 17.
    Division of Cardiac Surgery, Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland; Florida Hospital for Children, Orlando, Florida.
    Background: Among patients with congenital heart disease (CHD), the coexistence of noncardiac congenital anatomic abnormalities (NC), genetic abnormalities (GA), and syndromes (S) may influence therapeutic strategies and outcomes. The appreciated prevalence of these abnormalities has risen because increased screening and improved diagnostic precision enable identification of these comorbidities in a larger fraction of neonates with CHD. We examined the contemporary prevalence and distribution of NC/GA/S across diagnostic groups among neonates undergoing cardiac operations using a large nationally representative clinical registry. Read More

    The importance of recognizing a cervical origin of the right subclavian artery.
    Laryngoscope 2016 Nov 14;126(11):2497-2499. Epub 2016 Apr 14.
    Thyroid, Head and Neck Cancer Foundation, Mount Sinai Beth Israel, New York, New York, U.S.A.
    Cervical origin of the right subclavian artery is rare and is associated with DiGeorge syndrome. During total thyroidectomy and right lateral neck dissection for metastatic thyroid cancer in a 26-year-old female, the right subclavian artery was found to be cervical in origin. This was identifiable on preoperative computerized tomography. Read More

    Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty.
    Fetal Pediatr Pathol 2017 Feb 12;36(1):33-41. Epub 2016 Oct 12.
    b Simmons College, Simmons School of Social Work , Boston , Massachusetts , USA.
    Objective: This study examined the complexity and myriad clinical manifestations and expressions of velocardiofacial syndrome (VCFS). It aimed to determine if VCFS invariably met the three disability criteria for the Compassionate Allowance List (CAL) program administered by the Social Security Administration (SSA).

    Methods: A systematic evaluative review of the literature found in 10 academic databases was completed. Read More

    Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome.
    J Child Neurol 2016 Oct 4. Epub 2016 Oct 4.
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
    Impairments in executive function, such as working memory, are almost universal in children with chromosome 22q11.2 deletion syndrome. Delineating the neural underpinnings of these functions would enhance understanding of these impairments. Read More

    Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
    Am J Med Genet A 2017 Jan 28;173(1):135-142. Epub 2016 Sep 28.
    Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    We report the important association of congenital diaphragmatic hernia (CDH) and 22q11.2 deletion syndrome (22q11.2DS). Read More

    Cognitive behavioral therapy in 22q11.2 microdeletion with psychotic symptoms: What do we learn from schizophrenia?
    Eur J Med Genet 2016 Nov 14;59(11):596-603. Epub 2016 Sep 14.
    Centre ressource de réhabilitation et de remédiation cognitive, SUR-CL3R, Centre Hospitalier le Vinatier et Centre de Neuroscience Cognitive, UMR 5229 (CNRS et Université Claude Bernard Lyon 1), Université de Lyon, Lyon, France.
    The 22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, with a widely underestimated prevalence between 1 per 2000 and 1 per 6000. Read More

    Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    J Appl Genet 2017 Feb 14;58(1):93-98. Epub 2016 Sep 14.
    Department of Biology and Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211, Gdansk, Poland.
    Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1. Read More

    A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome.
    J Pediatr Genet 2015 Dec 14;4(4):201-3. Epub 2015 Oct 14.
    Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, United States.
    Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11. Read More

    Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.
    Am J Med Genet A 2016 Nov 8;170(11):2975-2983. Epub 2016 Sep 8.
    Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.
    The 22q11 deletion syndrome (22q11DS), the most frequent microdeletion syndrome in humans, presents with a large variety of abnormalities. A common abnormality is hearing impairment. The exact pathophysiological explanation of the observed hearing loss remains largely unknown. Read More

    Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome.
    Hum Mol Genet 2016 Aug 9. Epub 2016 Aug 9.
    Institute of Genetics and Biophysics, CNR, Via Pietro Castellino, Naples, Italy Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy
    Pathological conditions caused by reduced dosage of a gene, such as gene haploinsufficiency, can potentially be reverted by enhancing the expression of the functional allele. In practice, low specificity of therapeutic agents, or their toxicity reduces their clinical applicability. Here, we have used a high throughput screening (HTS) approach to identify molecules capable of increasing the expression of the gene Tbx1, which is involved in one of the most common gene haploinsufficiency syndromes, the 22q11. Read More

    SDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome.
    Rare Dis 2016 1;4(1):e1195050. Epub 2016 Jun 1.
    Université Pierre et Marie Curie, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, Paris, France; CNRS, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, Paris, France.
    The DiGeorge/22q11-deletion syndrome (22q11DS), also known as velocardiofacial syndrome, is a congenital disease causing numerous structural and behavioral disorders, including cardiac outflow tract anomalies, craniofacial dysmorphogenesis, parathyroid and thymus hypoplasia, and mental disorders. It results from a unique chromosomal microdeletion on the 22q11.2 region in which the transcriptional activator TBX1 is decisive for the occurrence of the disease. Read More

    Speech outcomes in children with 22q11.2 deletion syndrome following surgery for velopharyngeal insufficiency.
    Int J Pediatr Otorhinolaryngol 2016 Sep 29;88:34-7. Epub 2016 Jun 29.
    Department of Otolaryngology - Head & Neck Surgery, Emory University School of Medicine, 2015 Uppergate Drive, Room 222, Atlanta, GA, 30322, USA. Electronic address:
    Objective: The purpose of this study was to identify prognostic factors associated with improved speech outcomes following surgical correction for velopharyngeal insufficiency (VPI) in pediatric patients with 22q11.2 deletion syndrome (22q11DS).

    Methods: Eighteen patients were identified via retrospective chart review of patients with 22q11DS between 2005 and 2014. Read More


    Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
    Hum Mol Genet 2016 Sep 19;25(17):3754-3767. Epub 2016 Jul 19.
    Department of Neurology
    Velo-cardio-facial syndrome/DiGeorge syndrome/22q11.2 deletion syndrome (22q11.2DS) is caused by meiotic non-allelic homologous recombination events between flanking low copy repeats termed LCR22A and LCR22D, resulting in a 3 million base pair (Mb) deletion. Read More

    Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells.
    Prenat Diagn 2016 Sep 30;36(9):823-30. Epub 2016 Jul 30.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
    Objective: Detection of genomic copy number abnormalities in a single cell using array comparative genomic hybridization (CGH) offers a promising non-invasive alternative for prenatal diagnosis. Our objective was to compare three commercially available whole-genome amplification (WGA) kits for their capacity to produce high quality DNA from single cells that is suitable for both molecular genotyping and array CGH.

    Methods: We examined kit performance on unfixed, fixed and fixed/permeabilized lymphoblastoid cells. Read More

    Prevalence of hearing loss in children with 22q11.2 deletion syndrome.
    Int J Pediatr Otorhinolaryngol 2016 Aug 7;87:130-3. Epub 2016 Jun 7.
    Department of Otolaryngology - Head & Neck Surgery, Emory University School of Medicine, 2015 Uppergate Drive, Room 222, Atlanta, GA, 30322, USA. Electronic address:
    Objective: The purpose of this study was to determine the prevalence and characterize the types of hearing loss in pediatric patients with 22q11.2 deletion syndrome (22q11DS).

    Methods: Fifty-eight patients were identified via retrospective chart review performed of patients with 22q11DS between 1996 and 2014. Read More

    Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome.
    Case Rep Obstet Gynecol 2016 5;2016:2920375. Epub 2016 Jun 5.
    Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine, Long Island Jewish Medical Center, New Hyde Park, NY 11042, USA.
    Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Read More

    Palmitoylation of cdc42 Promotes Spine Stabilization and Rescues Spine Density Deficit in a Mouse Model of 22q11.2 Deletion Syndrome.
    Cereb Cortex 2016 Jun 29. Epub 2016 Jun 29.
    Department of Basic Neurosciences, Medical School, University of Geneva , 1211 Geneva 4, Switzerland.
    22q11.2 deletion syndrome (22q11DS) is associated with learning and cognitive dysfunctions and a high risk of developing schizophrenia. It has become increasingly clear that dendritic spine plasticity is tightly linked to cognition. Read More

    Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers.
    Cytogenet Genome Res 2016 15;148(4):249-55. Epub 2016 Jun 15.
    Department of Medical Genetics, Manipal Hospital, Bangalore, India.
    Congenital heart defect (CHD) is the most common form of birth defects. There is a high association between increased nuchal translucency and CHD in fetuses, and CHD in the antenatal period has a high incidence of 22q11.2 deletion syndrome (22q11. Read More

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