Abstract
In 1999, Chen et al. (1999) first described uniparental (paternal) isodisomy, resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro-/retrognathia, myopathy, deafness, and sterility.
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References
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Chen, H. (2016). I(1p), I(1q) Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_131-2
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DOI: https://doi.org/10.1007/978-1-4614-6430-3_131-2
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