Neurobehavioral profile and brain imaging study of the 22q13. 3 deletion syndrome in childhood
A Philippe, N Boddaert, L Vaivre-Douret, L Robel… - …, 2008 - publications.aap.org
OBJECTIVE. The 22q13. 3 deletion syndrome (Online Mendelian Inheritance in Man No.
606232) is a neurodevelopmental disorder that includes hypotonia, severely impaired
development of speech and language, autistic-like behavior, and minor dysmorphic
features. Although the number of reported cases is increasing, the 22q13. 3 deletion
remains underdiagnosed because of failure in recognizing the clinical phenotype and
detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to …
606232) is a neurodevelopmental disorder that includes hypotonia, severely impaired
development of speech and language, autistic-like behavior, and minor dysmorphic
features. Although the number of reported cases is increasing, the 22q13. 3 deletion
remains underdiagnosed because of failure in recognizing the clinical phenotype and
detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to …