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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