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

• Главные авторы: C. S. Paththinige (Автор), N. D. Sirisena (Автор), U. G. I. U. Kariyawasam (Автор), R. C. Ediriweera (Автор), P. Kruszka (Автор), M. Muenke (Автор), V. H. W. Dissanayake (Автор)
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• Опубликовано: BMC, 2018-05-01T00:00:00Z.
• Предметы: article
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Abstract 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...