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Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion
- Source :
- 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
- Publication Year :
- 2014
- Publisher :
- Wiley, 2014.
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 164
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....7c95216b0bfd1454261879332f22ef21