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Table 1 List of the SNP-A-based karyotyping findings for Case 1

From: Myelodysplastic syndrome presenting with central diabetes insipidus is associated with monosomy 7, visible or hidden: report of two cases and literature review

Chromosome abnormality Copy number state Size (Kb) Significance Location
LossMosaic (7p22.3-q36.3) × 1–2 1.5 159, 076 Abnormalities in myeloid malignancies esp. in MDS 43,376–159,119,707
GainMosaic (8p23.3-q24.3) × 2–3 2.3 145, 471 158,048–145,629,232
LossMosaic (12p13. 2-p13.1) × 2–3 1.5 1, 951 Reported in MDS-RAEB2 11, 197, 813–13, 148, 969
Gain(15q12.3) 3 414 Polymorphism in copy number variation 32, 029, 692–32, 444, 043
UPD (3p21.31-p21.1) 2 8, 455 Reported in the normal human UPD database and no reports in blood diseases with the acquired or constitutional UPDs* 45, 843, 438–54, 298, 805
UPD (20q11.21-q11.23) 2 6, 643 29, 501, 306–36, 153, 360
Gain (5p12p11) 3 1, 100 45, 288, 800–46, 389, 261
  1. UPD uniparental disomy
  2. *Reference database: Liehr T. 2021. Cases with uniparentaldisomy. http://cs-tl.de/DB/CA/UPD/0-Start.html