Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.
European Journal of Medical Genetics(2014)
Abstract
Microdeletion 12p13.33, though very rare, is an emerging condition associated with variable phenotype including a specific speech delay sound disorder, labelled childhood apraxia of speech (CAS), intellectual disability (ID) and neurobehavioral problems.
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Key words
12p13.33 Deletion,CACNA1C,Speech delay,Array-CGH,Interstitial deletion,Microcephaly
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