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Table 1 Chromosomal position and boundaries of large rearrangements identified by aCGH in four CdLS probands negative for mutations in NIPBL and SMC1A

From: Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Pt

Rearrangement

Size

Boundaries (bp)*

Origin

1

del(20)(q11.2q12)

4.2 Mb (min 4.259-max 4.313)

chr20:33228486-37488426

de novo**

2

del(1)(p36.23p36.22)

4.8 Mb (min 4.889-max 4.914)

chr1:7161146-12049775

de novo**

3

der(7)t(7;17)(p22.3;q24.2)

769 Kb del(7)(p22.3) (min 769-max 916)

chr7:140213-909190

t(7;17)(p22.3;q24.2)pat

  

14 Mb dup(17)(q24.2q25.3) (min 14.744-max 14.763)

chr17:63665720-78409550

4

dup(19)(p13.3)

880 Kb (min 880–891)

chr19:662118-1541750

mother: mos dup(19)(p13.3)***

  1. *UCSC Genome Browser assembly Mar.2006 (NCBI36/hg18).
  2. **Paternity confirmed by inheritance of benign CNVs.
  3. ***Mosaic condition.