A child with mosaicism for deletion (14)(q11.2q13)

In this case report we describe a child with a de novo deletion in the (q11.2q13) region of chromosome 14. The child presented with dysmorphic features - anophthalmia, microcephaly, and growth retardation. Cytogenetic studies showed mosaicism. The karyotype was 46,XX,del(14)(q11.2;q13) [16] /46,XX [...

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Detalles Bibliográficos
Autores principales: Gamage, Thilini H., Godapitiya, Imaya U.H., Nanayakkara, Shakila, Jayasekara, Rohan W., Dissanayake, Vajira H.W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385171/
https://www.ncbi.nlm.nih.gov/pubmed/22754240
http://dx.doi.org/10.4103/0971-6866.96684

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385171/
https://www.ncbi.nlm.nih.gov/pubmed/22754240
http://dx.doi.org/10.4103/0971-6866.96684

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