Abstract
A 2-month-old female infant with typical features of the 13q- syndrome was found to be a hitherto unreported mosaic consisting of 46,XX,del (13)(q22)/46,XX,r(13)(p13q22). She has not been able to maintain normal values of serum Na and Cl since the second day of life: this may be induced by cerebral dysgenesis.
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Tamura, T., Umetsu, M., Motoya, H. et al. 13q-/r(13) mosaicism. Eur J Pediatr 136, 101–104 (1981). https://doi.org/10.1007/BF00441721
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DOI: https://doi.org/10.1007/BF00441721