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Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and monosomy 7p22.3. We describe the patient's cl...

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Detalles Bibliográficos
Autores principales: Kohannim, Omid, Peredo, Jane, Dipple, Katrina M., Quintero-Rivera, Fabiola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447257/
https://www.ncbi.nlm.nih.gov/pubmed/23074670
http://dx.doi.org/10.1155/2011/131768