Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy

BACKGROUND: Inverted duplications (inv dup) of a terminal chromosome region are a particular subset of rearrangements that often results in partial tetrasomy or partial trisomy when accompanied by a deleted chromosome. Associated mosaicism could be the consequence of a post-zygotic event or could re...

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Bibliographic Details
Main Author: Carreira, IM (author)
Other Authors: Melo, JB (author), Rodrigues, C (author), Backx, L (author), Vermeesch, J (author), Weise, A (author), Kosyakova, N (author), Oliveira, G (author), Matoso, E (author)
Format: article
Language:eng
Published: 2012
Subjects:
Perturbação Autística
Online Access:http://hdl.handle.net/10400.4/1376
Country:Portugal
Oai:oai:rihuc.huc.min-saude.pt:10400.4/1376

Internet

http://hdl.handle.net/10400.4/1376

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