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
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DOI: 10.1186/s12920-018-0366-6
Abstract: BackgroundParental 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… read more here.
Keywords: balanced translocation; qter; partial trisomy; trisomy 7q22 ... See more keywords