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22q11.2 Deletion Syndrome

DiGeorge sequenceShprintzen syndromeDiGeorge SyndromeVelocardiofacial Syndrome (VCFS)Conotruncal Anomaly Face Syndrome (CTAF)
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Clinical Trials

This information is provided by ClinicalTrials.gov

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Displaying 1-8 of 8 results.
First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome
Status: Recruiting
Last Changed: Feb 11, 2020
First Received: Dec 18, 2017
Disease(s): Pregnancy
Intervention(s): cfDNA screening
Locations: University Hospital Tuebingen, Department of Women's Health, Tuebingen, Germany
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Status: Recruiting
Last Changed: Jul 26, 2019
First Received: Oct 08, 2008
Disease(s): Velocardiofacial Syndrome, Williams Syndrome, Fragile X Syndrome
Intervention(s): methylphenidate, fluoxetin, risperidone
Locations: Schneider Children's Mediac Center of Israel, Petach-Tikva, Israel
Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom
Status: Not yet recruiting
Last Changed: Mar 05, 2020
First Received: Oct 28, 2019
Disease(s): Di George Syndrome
Intervention(s): Molecular analyses
Locations: Hopital Vinatier, Lyon, Rhone Alpes, France
Thymus Transplantation Safety-Efficacy
Status: Available
Last Changed: Jul 19, 2019
First Received: Oct 14, 2010
Disease(s): Complete DiGeorge Anomaly, DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Syndrome
Intervention(s): Thymus Tissue for Transplantation, Blood Draw, Rabbit anti-thymocyte globulin, Cyclosporine, Tacrolimus, Methylprednisolone or Prednisolone, Basiliximab, Mycophenolate mofetil
Locations: Duke University Medical Center, Durham, North Carolina, United States
Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study
Status: Recruiting
Last Changed: Jan 27, 2020
First Received: Sep 07, 2016
Disease(s): 22q11 Deletion Syndrome Di George Syndrome
Locations: CHUNimes, Nîmes, France
Online Study of Individuals With Genetic Changes and Features of Autism: Simons Searchlight
Status: Recruiting
Last Changed: Feb 24, 2020
First Received: Nov 10, 2010
Disease(s): 16p11.2 Deletions, 16p11.2 Duplications, 1q21.1 Deletions, 1q21.1 Duplications, ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, ASXL3, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1, CUL3, DDX3X, DNMT3A, DSCAM, DST, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2, HNRNPH2, KAT6A, KATNAL2, KDM5B, KDM6B, KMT2C, KMT2E, KMT5B (Previously SUV420H1), MBD5, MED13L, PACS1, PBRM1, POGZ, PPP2R5D, PTCHD1, PTEN, PURA, REST, SCN2A, SETBP1, SETD5, SMARCA4 (BAF190), SMARCC1, SMARCC2, STXBP1, SYNGAP1, TBR1, ARHGEF9, HNRNPU, KCNQ2, PPP3CA (PPP2B), PPP2R1A, SLC6A1, 2p16.3 Deletions, 3q29 Deletions, 3q29 Duplications, 5q35 Deletions, 5q35 Duplications, 7q11.23 Deletions, 7q11.23 Duplications, 8p23.1 Deletions, 8P23.1 Duplication Syndrome (Disorder), 15q11.2-q13.1 Deletions, 15q11.2-q13.1 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16p12.1 Deletions, 16p13.3 Deletions, 17p11.2 Deletions, 17P11.2 Duplication Syndrome, 17q11.2 Deletions, 17q11.2 Duplications, 17q12 Deletions, 17Q12 Duplication Syndrome, 17q21.3 Deletions, 17q21.3 Duplications, 22q11.2 Deletion Syndrome, 22Q11.2 Duplication, 22Q13.3 Deletion Syndrome, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX, AUTS2, BAZ2B, BCKDK, BRAF, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CDKL5, CHD3, CHD7, CIC, CNOT3, CREBBP, CSDE1, CTCF, DEAF1, DHCR7, DLG4, DMPK, EBF3, EHMT1, EP300, FMR1, FOXG1 Syndrome, GIGYF1, GIGYF2, GRIN1, GRIN2D, HRAS, IQSEC2, IRF2BPL, KANSL1, KCNB1, KCNQ3, KDM3B, KIAA2022, KMT2A, KRAS, LZTR1, MAGEL2, MAP2K1 Gene Mutation, MAP2K2 Gene Mutation, MBOAT7, MECP2, MED13, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NF1, NIPBL, NLGN2, NLGN3, NLGN4X, NRAS, NR4A2, NRXN1, NRXN2, NRXN3, NSD1 Gene Mutation, PCDH19, PHF21A, PHF3, PHIP, POMGNT1, PPP1CB, PSMD12, PTPN11 Gene Mutation, RAF1 Gene Mutation, RAI1, RELN, RERE, RFX3, RIMS1, RIT1, RORB, SCN1A, SCN8A, SETD2, SHANK2, SHANK3, SHOC2, SIN3A, SLC9A6 (NHE6), SON, SOS1, SOS2, SOX5, SPAST, SRCAP, TAOK1, TANC2, TBCK, TCF20, TCF4, TLK2, TRIO, TRIP12, TSC1, TSC2, TSHZ3, UBE3A, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, Additional Genetic Changes Associated With Autism May be Added as Identified
Locations: Geisinger Health System, Lewisburg, Pennsylvania, United States
Immune Disorder HSCT Protocol
Status: Recruiting
Last Changed: Mar 26, 2019
First Received: Apr 01, 2013
Disease(s): Immune Deficiency Disorders, Severe Combined Immunodeficiency, Chronic Granulomatous Disease, X-linked Agammaglobulinemia, Wiskott-Aldrich Syndrome, Hyper-IgM, DiGeorge Syndrome, Chediak-Higashi Syndrome, Common Variable Immune Deficiency, Immune Dysregulatory Disorders, Hemophagocytic Lymphohistiocytosis, IPEX, Autoimmune Lymphoproliferative Syndrome, X-linked Lymphoproliferative Syndrome
Intervention(s): Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
Locations: Washington University, Saint Louis, Missouri, United States
Methodist Heathcare, San Antonio, Texas, United States
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
Status: Recruiting
Last Changed: Aug 21, 2019
First Received: Feb 22, 2018
Disease(s): Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease, Thoracic Aortic Dissection, Thoracic Aortic Rupture, Ascending Aortic Disease, Descending Aortic Disease, Ascending Aortic Aneurysm, Descending Aortic Aneurysm, Marfan Syndrome, Loeys-Dietz Syndrome, Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Turner Syndrome, PHACE Syndrome, Autosomal Recessive Cutis Laxa, Congenital Contractural Arachnodactyly, Arterial Tortuosity Syndrome
Locations: IU School of Medicine, Indianapolis, Indiana, United States