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 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.
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Sociedad Chilena de Pediatría
2015
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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 |
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Cascella,Marco Muzio,Maria Rosaria |
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Cascella,Marco Muzio,Maria Rosaria Early onset intellectual disability in chromosome 22q11.2 deletion syndrome |
| author_facet |
Cascella,Marco Muzio,Maria Rosaria |
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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 |
| 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. |
| publisher |
Sociedad Chilena de Pediatría |
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2015 |
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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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1755989724081684480 |