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Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies

Partial duplication and partial deletion of the short arm of chromosome 9 have each been reported in the literature as clinically recognizable syndromes. We present clinical, cytogenetic, and molecular findings on a five-week-old female infant with concomitant duplication and terminal deletion of th...

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Detalles Bibliográficos
Autores principales: Di Bartolo, Daniel L, El Naggar, Mohamed, Owen, Renius, Sahoo, Trilochan, Gilbert, Fred, Pulijaal, Venkat R, Mathew, Susan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3419606/
https://www.ncbi.nlm.nih.gov/pubmed/22768875
http://dx.doi.org/10.1186/1755-8166-5-31