A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

BACKGROUND: Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Paththinige, C. S., Sirisena, N. D., Kariyawasam, U. G. I. U., Ediriweera, R. C., Kruszka, P., Muenke, M., Dissanayake, V. H. W.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5941489/
https://ncbi.nlm.nih.gov/pubmed/29739404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0366-6
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