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A case of de novo i(12p) with 12q whole-arm translocation mosaicism |
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| Authors: | Antonia Paula Marques-de-Faria Christine Hackel |
| Abstract: | We report a dup(12p) due to a de novo i(12p) in a girl with mosaicism for 12q whole-arm translocations onto 7p, 7q, and 11q terminal regions. The dup(12p) syndrome was confirmed by clinical, cytogenetic, and LDH-dosage studies. |
| Keywords: | isochromosome 12p de novo duplication 12p 12q translocation mosaicism multiple congenital anomalies syndrome |