Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Anne S. Bassett,Donna M. McDonald-McGinn,Koenraad Devriendt,Maria Cristina Digilio,Paula Goldenberg,Alex Habel,Bruno Marino,Sólveig Óskarsdóttir,Nicole Philip,Kathleen E. Sullivan,Ann Swillen,Jacob A. S. Vorstman +11 more
Reads0
Chats0
TLDR
A 12-year-old boy currently is followed by multiple sub-specialists for problems caused by the chromosome 22q11.2 deletion syndrome (22q11DS) and has mild dysmorphic facial features of a boy aged 11 years with 22q 11.2DS.About:
This article is published in The Journal of Pediatrics.The article was published on 2011-08-01 and is currently open access. It has received 483 citations till now.read more
Citations
More filters
Journal ArticleDOI
22q11.2 deletion syndrome
Donna M. McDonald-McGinn,Kathleen E. Sullivan,Bruno Marino,Nicole Philip,Ann Swillen,Jacob A. S. Vorstman,Elaine H. Zackai,Beverly S. Emanuel,Joris Vermeesch,Bernice E. Morrow,Peter J. Scambler,Anne S. Bassett +11 more
TL;DR: The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease as mentioned in this paper.
Journal ArticleDOI
Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association.
Bradley S. Marino,Paul H. Lipkin,Jane W. Newburger,Georgina Peacock,Marsha Gerdes,J. William Gaynor,Kathleen A. Mussatto,Karen Uzark,Caren S. Goldberg,Walter H. Johnson,Jennifer S. Li,Sabrina E. Smith,David C. Bellinger,William T. Mahle +13 more
TL;DR: A CHD algorithm for surveillance, screening, evaluation, reevaluation, and management of developmental disorder or disability has been constructed to serve as a supplement to the 2006 American Academy of Pediatrics statement on developmental surveillance and screening.
Journal Article
The 22q11.2 deletion syndrome.
TL;DR: 22q11.2 deletion syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome.
Journal ArticleDOI
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.
Maude Schneider,Martin Debbané,Anne S. Bassett,Eva W.C. Chow,Wai Lun Alan Fung,Marianne Bernadette van den Bree,Michael John Owen,Kieran Murphy,Maria Niarchou,Wendy R. Kates,Kevin M. Antshel,Wanda Fremont,Donna M. McDonald-McGinn,Raquel E. Gur,Elaine H. Zackai,Jacob A. S. Vorstman,Sasja Duijff,Petra W.J. Klaassen,Ann Swillen,Doron Gothelf,Tamar Green,Abraham Weizman,Therese van Amelsvoort,L. J. M. Evers,Erik Boot,Vandana Shashi,Stephen R. Hooper,Carrie E. Bearden,Maria Jalbrzikowski,Marco Armando,Stefano Vicari,Declan G. Murphy,Opal Y. Ousley,Linda E. Campbell,Tony J. Simon,Stephan Eliez +35 more
TL;DR: Findings validate previous findings that this condition is one of the strongest risk factors for psychosis and highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome.
Iconographies supplémentaires de l'article : Practice parameter for the diagnosis and management of primary immunodeficiency
Francisco A. Bonilla,David A. Khan,Zuhair K. Ballas,Javier Chinen,Michael M. Frank,Joyce T. Hsu,Michael D. Keller,Lisa Kobrynski,Hirsh D. Komarow,Bruce Mazer,Robert P. Nelson,Jordan S. Orange,John M. Routes,William T. Shearer,Ricardo U. Sorensen,James W. Verbsky,David I. Bernstein,Joann Blessing-Moore,David Lang,Richard A. Nicklas,John Oppenheimer,Jay M Portnoy,Christopher Randolph,Diane E. Schuller,Sheldon L. Spector,S. Tilles,Dana V. Wallace,D.A. Khan +27 more
TL;DR: This document incorporated the efforts of many participants, and no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters.
References
More filters
Journal ArticleDOI
Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller,Margaret P Adam,Margaret P Adam,Swaroop Aradhya,Leslie G. Biesecker,Arthur R. Brothman,Nigel P. Carter,Deanna M. Church,John A. Crolla,Evan E. Eichler,Charles J. Epstein,W. Andrew Faucett,Lars Feuk,Jan M. Friedman,Ada Hamosh,Laird G. Jackson,Erin B. Kaminsky,Klaas Kok,Ian D. Krantz,Robert M. Kuhn,Charles Lee,James Ostell,Carla Rosenberg,Stephen W. Scherer,Nancy B. Spinner,Dimitri J. Stavropoulos,James Tepperberg,Erik C. Thorland,Joris Vermeesch,Darrel Waggoner,Michael S. Watson,Christa Lese Martin,David H. Ledbetter +32 more
TL;DR: Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).
Journal ArticleDOI
22q11.2 deletion syndrome
Donna M. McDonald-McGinn,Kathleen E. Sullivan,Bruno Marino,Nicole Philip,Ann Swillen,Jacob A. S. Vorstman,Elaine H. Zackai,Beverly S. Emanuel,Joris Vermeesch,Bernice E. Morrow,Peter J. Scambler,Anne S. Bassett +11 more
TL;DR: The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease as mentioned in this paper.
Journal ArticleDOI
Clinical guidelines: Developing guidelines
TL;DR: The five steps in the initial development of an evidence based guideline are considered and the results of their combined experience in guideline development in North America and Britain are presented.
Journal ArticleDOI
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis
Tamim H. Shaikh,Hiroki Kurahashi,Sulagna C. Saitta,Anna Mizrahy O’Hare,Ping Hu,Bruce A. Roe,Deborah A. Driscoll,Donna M. McDonald-McGinn,Elaine H. Zackai,Marcia L. Budarf,Beverly S. Emanuel +10 more
TL;DR: The identification of chromosome 22-specific duplicated sequences or low copy repeats (LCRs) near the end-points of the 3 Mb TDR has led to the hypothesis that they mediate deletions of 22q11.2.
Journal ArticleDOI
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
Deborah A. Driscoll,Joshua W. Salvin,B Sellinger,M L Budarf,D M McDonald-McGinn,Elaine H. Zackai,Beverly S. Emanuel +6 more
TL;DR: FISH is an efficient and direct method for the detection of 22q11 deletions in subjects with features of DGS and VCFS as well as in pregnancies at high risk for a deletion.
Related Papers (5)
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.
Maude Schneider,Martin Debbané,Anne S. Bassett,Eva W.C. Chow,Wai Lun Alan Fung,Marianne Bernadette van den Bree,Michael John Owen,Kieran Murphy,Maria Niarchou,Wendy R. Kates,Kevin M. Antshel,Wanda Fremont,Donna M. McDonald-McGinn,Raquel E. Gur,Elaine H. Zackai,Jacob A. S. Vorstman,Sasja Duijff,Petra W.J. Klaassen,Ann Swillen,Doron Gothelf,Tamar Green,Abraham Weizman,Therese van Amelsvoort,L. J. M. Evers,Erik Boot,Vandana Shashi,Stephen R. Hooper,Carrie E. Bearden,Maria Jalbrzikowski,Marco Armando,Stefano Vicari,Declan G. Murphy,Opal Y. Ousley,Linda E. Campbell,Tony J. Simon,Stephan Eliez +35 more
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more