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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Detalhes bibliográficos
Main Authors: Gamage, Thilini H., Godapitiya, Imaya U.H., Nanayakkara, Shakila, Jayasekara, Rohan W., Dissanayake, Vajira H.W.
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2012
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3385171/
https://ncbi.nlm.nih.gov/pubmed/22754240
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.96684
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