Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

BACKGROUND: Small supernumerary marker chromosomes (sSMC) occur in 0.075% of unselected prenatal and in 0.044% of consecutively studied postnatal cases. Individuals with sSMC present with varying phenotype, ranging from normal to extremely mild or severe depending on the chromosomal region involved,...

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Detalles Bibliográficos
Autores principales: Murthy, Sabita K, Malhotra, Ashok K, Jacob, Preenu S, Naveed, Sehba, Al-Rowaished, Eman EM, Mani, Sara, Padariyakam, Shabeer, Pramathan, R, Nath, Ravi, Al-Ali, Mahmoud Taleb, Al-Gazali, Lihadh
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2538529/
https://www.ncbi.nlm.nih.gov/pubmed/18700989
http://dx.doi.org/10.1186/1755-8166-1-19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2538529/
https://www.ncbi.nlm.nih.gov/pubmed/18700989
http://dx.doi.org/10.1186/1755-8166-1-19

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