Revista de neurologia · 2015
[Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay].
Клинический случайАннотация на английскомСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Arroyo-Carrera Ignacio, de Zaldívar-Tristancho M Solo, Martín-Fernández Rebeca, Hernández-Martín Raquel, López-Lafuente Amparo, Rodríguez-Revenga Laia
Аннотация
INTRODUCTION: The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.
CASE REPORT: We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 deletion involving SOX5.
CONCLUSIONS: We review the reported cases, intragenic SOX5 deletions and larger 12p12 deletions encompassing SOX5. We analyze the genotype-phenotype associations and the genes involved in our patient.
CASE REPORT: We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 deletion involving SOX5.
CONCLUSIONS: We review the reported cases, intragenic SOX5 deletions and larger 12p12 deletions encompassing SOX5. We analyze the genotype-phenotype associations and the genes involved in our patient.
Предметные рубрики MeSH
Abnormalities, MultipleCentromereChildChromosome DeletionChromosomes, Human, Pair 12Comparative Genomic HybridizationDevelopmental DisabilitiesFemaleGerm-Line MutationHumansIntellectual DisabilityIntronsMicrocephalyNeurodevelopmental DisordersPhenotypeSOXD Transcription FactorsSelf-Injurious BehaviorSequence DeletionSyndrome