A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

BACKGROUND: Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD). Deletion 1q44 (or Monosomy 1q44) is a well-defined syndrome, but there is controversy about the genes lying in 1q44 regi...

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Detalles Bibliográficos
Autores principales: Lall, Meena, Thakur, Seema, Puri, Ratna, Verma, Ishwar, Mukerji, Mithali, Jha , Pankaj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198697/
https://www.ncbi.nlm.nih.gov/pubmed/21936942
http://dx.doi.org/10.1186/1755-8166-4-19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198697/
https://www.ncbi.nlm.nih.gov/pubmed/21936942
http://dx.doi.org/10.1186/1755-8166-4-19

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