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Table. 3 Molecular and cytogenetic results of 4 fetuses with PKS

From: Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples

  karyotype SNP-array FISH
fetus1 mos 47, XY, +i (12) (p10) [5]/46, XY [95] arr [GRCh38] 12p13. 33p11. 1 (173786_34835641) × 2–3 nuc ish 12p13 (TEL × 4)/12p13 (TEL × 2) [23/77]
fetus2 mos 47, XX, +i (12) (p10) [3]/46, XX [97] arr [GRCh38] 12p13. 33p11. 1 (173786_34835641) × 2–3 nuc ish 12p13 (TEL × 4)/12p13 (TEL × 2) [18/82]
fetus3 mos 47, XX, +i (12) (p10) [5]/46, XX [95] arr [GRCh38] 12p13. 33p11. 1 (173786_34835641) × 2–3 nuc ish 12p13 (TEL × 4)/12p13 (TEL × 2) [35/65]
fetus4 mos 47, XX, +i (12) (p10) [2]/46, XX [98] arr [GRCh38] 12p13.33p11. 1 (173786_34835641) × 2–3 nuc ish 12p13 (TEL × 4)/12p13 (TEL × 2) [22/78]