skip to main content
Language:
Search Limited to: Search Limited to: Resource type Show Results with: Show Results with: Search type Index

22q11.2 deletion syndrome

Nature reviews. Disease primers, 2015-11, Vol.1 (1), p.15071-15071, Article 15071 [Peer Reviewed Journal]

Macmillan Publishers Limited 2015. ;ISSN: 2056-676X ;EISSN: 2056-676X ;DOI: 10.1038/nrdp.2015.71 ;PMID: 27189754

Full text available

Citations Cited by
  • Title:
    22q11.2 deletion syndrome
  • Author: McDonald-McGinn, Donna M ; Sullivan, Kathleen E ; Marino, Bruno ; Philip, Nicole ; Swillen, Ann ; Vorstman, Jacob A S ; Zackai, Elaine H ; Emanuel, Beverly S ; Vermeesch, Joris R ; Morrow, Bernice E ; Scambler, Peter J ; Bassett, Anne S
  • Subjects: Abnormalities, Multiple - genetics ; Child ; Congenital diseases ; DiGeorge Syndrome - genetics ; DiGeorge Syndrome - psychology ; DiGeorge Syndrome - therapy ; Genetic Testing ; Humans ; Infant, Newborn ; Patient Care Team
  • Is Part Of: Nature reviews. Disease primers, 2015-11, Vol.1 (1), p.15071-15071, Article 15071
  • Description: 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. 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. The 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. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population.
  • Publisher: England: Nature Publishing Group
  • Language: English
  • Identifier: ISSN: 2056-676X
    EISSN: 2056-676X
    DOI: 10.1038/nrdp.2015.71
    PMID: 27189754
  • Source: MEDLINE
    ProQuest Central
Back to results list
INSPIRE LIBRARY - TON DUC THANG UNIVERSITY (84-028) 37 755 057 Feedback
19 Nguyen Huu Tho St. Dist.7, HCM thuvien@tdtu.edu.vn

Copyright © 2017 INSPIRE LIBRARY - TON DUC THANG UNIVERSITY

Searching Remote Databases, Please Wait