Table 5

Karyotypes of cases with tetrasomy 21 and tetrasomy 21 mosaicism

Karyotype Jabs et al11 Daumer-Haas et al10 Nagarsheth and
Mootabar18
GutiƩrrez-Angulo et al12 Cerretini et al13 Our patient
Mosaic/non-mosaicNon-mosaicNon-mosaicMosiacNon-mosaicNon-mosaicNon-mosaic
Peripheral blood lymphocytes48,XY,+21,+2147,XX,+idic(21)(q22.1)Mos47,XY,+mar.ish i(21)(q10)[1 cell]/ 46,XY[119 cells]47,XY,+psu idic(21)(q22.1)47,XY,+psu dic(21;21) (q22.11;q22.11)47,XY,+psu idic(21)(q22.1)
Skin fibroblasts47,XY,+psu idic(21)(q22.1)
AmniocytesMos47,XY, +i(21q)/46,XY
Parental chromosomesNormalMaternal studies normalNormalNormalNormalNormal