Abstract:
:The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fuorescence in situ hybridization (FISH). The objectives of this article were to describe the clinical features of 32 patients with 22q11.2 microdeletion and the fndings of other chromosomal abnormalities and genetic syndromes in phenotypically similar patients. This series was made up of 268 patients with clinical criteria supporting the diagnostic suspicion attended at the Hospital de Niños and Hospital Privado, of Córdoba, between March 1st, 2004 and August 31st, 2011. The following parameters were analyzed: age at the time of the diagnosis, sex, clinical manifestations, and mortality. Thirty-two patients (19 males and 13 females) had a positive result for this deletion. The diagnosis was made mostly in their frst months and years of life (age range: 7 days old-31 years old). The clinical manifestations were: congenital heart diseases (22/32), thymic hypoplasia-agenesis/ recurrent infections (10/32), velopalatal insuffciency (8/32). Five patients died; four due to a complication associated with their cardiovascular disease and one due to multiple organ failure. The clinical manifestations of the syndrome were varied.
journal_name
Arch Argent Pediatrjournal_title
Archivos argentinos de pediatriaauthors
Del Carmen Montes C,Sturich A,Chaves A,Juaneda E,Orellana J,De Rossi R,Pereyra B,Alday L,Rossi NTdoi
10.5546/aap.2013.423subject
Has Abstractpub_date
2013-10-01 00:00:00pages
423-7issue
5eissn
0325-0075issn
1668-3501pii
S0325-00752013000500011journal_volume
111pub_type
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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doi:10.1590/S0325-00752011000300015
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,评审
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