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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מידע ביבליוגרפי
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2008
נושאים:
Case Report
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2538529/
https://ncbi.nlm.nih.gov/pubmed/18700989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-1-19
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