Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observe...

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Main Authors: Sirisena, Nirmala D., Wijetunge, U. Kalpani S., de Silva, Ramya, Dissanayake, Vajira H. W.
Formato: Artigo
Idioma:Inglês
Publicado: Hindawi Publishing Corporation 2013
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3741698/
https://ncbi.nlm.nih.gov/pubmed/23984121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/785830
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