Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2813712 | European Journal of Medical Genetics | 2015 | 5 Pages |
Abstract
We report on the clinical data and molecular cytogenetic findings in three unrelated patients presenting with intellectual disability and behavior abnormalities. An overlapping microduplication involving 3p26.2-26.3 was identified in these patients. All three aberrations were confirmed and proven to be parentally inherited. The sizes of the duplications were different, with a common minimal region of 423,754 bp containing two genes – TRNT1 and CRBN. Here, we hypothesize that the copy number gain of CRBN gene might be responsible for developmental delay/intellectual disability.
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Authors
Sorina M. Papuc, Karl Hackmann, Joris Andrieux, Catherine Vincent-Delorme, Magdalena Budişteanu, Aurora Arghir, Evelin Schrock, Andreea C. Ţuţulan-Cuniţă, Nataliya Di Donato,