A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach

BACKGROUND: Chromosome abnormalities that segregate with a disease phenotype can facilitate the identification of disease loci and genes. The relationship between chromosome 18 anomalies with severe intellectual disability has attracted the attention of cytogeneticists worldwide. Duplications of the...

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Hlavní autoři: Pinto, Irene Plaza, Minasi, Lysa Bernardes, da Cruz, Alex Silva, de Melo, Aldaires Vieira, da Cruz e Cunha, Damiana Míriam, Pereira, Rodrigo Roncato, Ribeiro, Cristiano Luiz, da Silva, Claudio Carlos, de Melo e Silva, Daniela, da Cruz, Aparecido Divino
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4099144/
https://ncbi.nlm.nih.gov/pubmed/25028595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-44
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