Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

BACKGROUND: Trisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year-old female with an unusual karyotype with three cell lines: 47,XX,+mar/47,XX,+14/46,XX. At six months old she had short stature, cleft palate, hyperpigmented l...

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Detalhes bibliográficos
Principais autores: Salas-Labadía, Consuelo, Lieberman, Esther, Cruz-Alcívar, Roberto, Navarrete-Meneses, Pilar, Gómez, Samuel, Cantú-Reyna, Consuelo, Buiting, Karin, Durán-McKinster, Carola, Pérez-Vera, Patricia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4180134/
https://ncbi.nlm.nih.gov/pubmed/25276227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0065-8
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