Early onset intellectual disability in chromosome 22q11.2 deletion syndrome

Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical...

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Autores principales:	Cascella,Marco, Muzio,Maria Rosaria
Lenguaje:	English
Publicado:	Sociedad Chilena de Pediatría 2015
Materias:	DiGeorge syndrome Velocardiofacial syndrome Microdeletion syndrome 22q11 deletion syndrome Tetralogy of Fallot Cognitive impairment Intellectual disability disorders
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062015000400010
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spelling	oai:scielo:S0370-410620150004000102015-10-27Early onset intellectual disability in chromosome 22q11.2 deletion syndromeCascella,MarcoMuzio,Maria Rosaria DiGeorge syndrome Velocardiofacial syndrome Microdeletion syndrome 22q11 deletion syndrome Tetralogy of Fallot Cognitive impairment Intellectual disability disorders Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation.info:eu-repo/semantics/openAccessSociedad Chilena de PediatríaRevista chilena de pediatría v.86 n.4 20152015-08-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062015000400010en10.1016/j.rchipe.2015.06.019
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	DiGeorge syndrome Velocardiofacial syndrome Microdeletion syndrome 22q11 deletion syndrome Tetralogy of Fallot Cognitive impairment Intellectual disability disorders
spellingShingle	DiGeorge syndrome Velocardiofacial syndrome Microdeletion syndrome 22q11 deletion syndrome Tetralogy of Fallot Cognitive impairment Intellectual disability disorders Cascella,Marco Muzio,Maria Rosaria Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
description	Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation.
author	Cascella,Marco Muzio,Maria Rosaria
author_facet	Cascella,Marco Muzio,Maria Rosaria
author_sort	Cascella,Marco
title	Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
title_short	Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
title_full	Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
title_fullStr	Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
title_full_unstemmed	Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
title_sort	early onset intellectual disability in chromosome 22q11.2 deletion syndrome
publisher	Sociedad Chilena de Pediatría
publishDate	2015
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062015000400010
work_keys_str_mv	AT cascellamarco earlyonsetintellectualdisabilityinchromosome22q112deletionsyndrome AT muziomariarosaria earlyonsetintellectualdisabilityinchromosome22q112deletionsyndrome
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Early onset intellectual disability in chromosome 22q11.2 deletion syndrome

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