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Table 4 Origin analysis of 3 cases with small-size segmental imbalances by FISH

From: Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology

No.

Copy number variants

FISH test

Parental origin

Probea

Paternal

Maternal

C0012

-(2q37.3-qter)(4.6 M);

6p SG; 6q SO

Normal

Normal

De novo

+(6q23.2-qter)(36.1 M)

C0044

-(6q25.3-qter)(12.5 M);

6p SG; 6q SO

Carrier

Normal

Paternal

+(10q26.11-qter)(13.8 M)

C0146

+(9q34.11-qter)(9.2 M);

14q SO

Carrier

Normal

Paternal

-(14q32.13-qter)(14.8 M)

  1. aFISH test was performed on the metaphase of lymphocytes using telomeric probes. SG spectrum of green, SO spectrum of orange. Carrier, reciprocal balanced translocation carrier