13q-/r(13) mosaicism
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Updated: Nov 8, 2026

07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
European Journal of Pediatrics
|March 1, 1981
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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