Abstract
We describe a newborn female with a de novo duplication of chromosomes 2q31.2 and 2q37.3, and a de novo monosomy 9p24.3. The clinical findings of this patient include congenital heart defects, dysmorphic facial features, hypotonia, feeding difficulties and microcephaly. Ultrasonographic prenatal findings were negative for foetal malformations. Only a mild pyelectasis was reported. This is the first report of molecular cytogenetic characterization of a partial trisomy 2q31.2–37.3 with monosomy 9p24.3.
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Authors wish to thank the parents for their cooperation and for providing the photographic documentation.
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Colangelo, M., Alfonsi, M., Palka, C. et al. Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3. J Genet 97, 311–317 (2018). https://doi.org/10.1007/s12041-017-0879-3
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DOI: https://doi.org/10.1007/s12041-017-0879-3