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Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.
Balci S, Tümer C, Karaca C, Bartsch O. Balci S, et al. Among authors: karaca c. Am J Med Genet A. 2011 May;155A(5):1129-35. doi: 10.1002/ajmg.a.33868. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484996
268 results