Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report

INTRODUCTION: Monosomy 1p36 is one of the most common terminal deletion syndromes, with an approximate incidence of 1 in every 5000 live births. This syndrome is associated with several pronounced clinical features including characteristic facial features, cardiac abnormalities, seizures and mental...

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Detalles Bibliográficos
Autores principales: Fitzgibbon, Gregory J, Clayton-Smith, Jill, Banka, Siddharth, Hamilton, Susan J, Needham, Margaret M, Dore, Jonathan K, Miller, Jake T, Pawson, Gareth D, Gaunt, Lorraine
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2596801/
https://www.ncbi.nlm.nih.gov/pubmed/19019217
http://dx.doi.org/10.1186/1752-1947-2-355

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