Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion
| Autor: | Novara, Francesca, Stanzial, Franco, Rossi, Elena, Benedicenti, Francesco, Inzana, Francesca, Di Gregorio, Eleonora, Brusco, Alfredo, Graakjaer, Jesper, Fagerberg, Christina, Belligni, ELGA FABIA, Elga Fabia, Cirillo, Margherita, Zuffardi, Orsetta, Ciccone, Roberto |
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| Rok vydání: | 2014 |
| Předmět: |
Male
Microcephaly Array-CGH Adolescent NSD1 Sotos syndrome array-CGH Biology Bioinformatics NSD1 Short stature Segmental Duplications Genomic Chromosome Duplication Gene duplication Genetics medicine Humans Sotos syndrome Genetic Association Studies In Situ Hybridization Fluorescence Genetics (clinical) Comparative Genomic Hybridization Sotos Syndrome Facies Bone age Middle Aged medicine.disease Phenotype array-CGH Child Preschool Failure to thrive Chromosomes Human Pair 5 Female Chromosome Deletion medicine.symptom Comparative genomic hybridization |
| Zdroj: | Novara, F, Stanzial, F, Rossi, E, Benedicenti, F, Inzana, F, Di Gregorio, E, Brusco, A, Graakjaer, J, Fagerberg, C R, Belligni, E, Silengo, M, Zuffardi, O & Ciccone, R 2014, ' Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion ', American Journal of Medical Genetics. Part A, vol. 164, no. 8, pp. 2084-2090 . https://doi.org/10.1002/ajmg.a.36591 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.36591 |
| Popis: | NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype. Reverse clinical phenotype due to 5q35 microduplication encompassing NSD1 gene has been reported so far in 27 cases presenting with delayed bone age, microcephaly, failure to thrive and seizures in some cases, further supporting a gene dosage effect of NSD1 on growth regulation and neurological functions. Here we depict the clinical presentation of three new cases with 5q35 microduplication outlining a novel syndrome characterized by microcephaly, short stature, developmental delay and in some cases delayed bone maturation, without any typical facial or osseous anomalies. |
| Databáze: | OpenAIRE |
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