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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]

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Molecular Cytogenetics

ISSN: 1755-8166