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Table 3 Pedigree genotypes

From: Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report

Family member Age Phenotype 13q34 Duplication SGCEExon10 BRCA1, rs799917 XRCC3, rs861539
NC_000017: NC_000014:
g.41244936G > A g.104165753G > A
Proband 37 Generalized dystonia, breast cancer, dysmorphism Yes c.1294A > C (homozygous), c.1295G > A (heterozygous) heterozygous heterozygous
Father 71 Normal Yes c.1294A > C (homozygous), c.1295G > A (heterozygous) heterozygous wild-type
Mother 70 Normal No c.1294A > C (homozygous) heterozygous heterozygous
Brother 47 Normal No c.1294A > C (homozygous) heterozygous wild-type
Brother 46 Normal No c.1294A > C (homozygous) heterozygous heterozygous
Brother 43 Normal Yes c.1294A > C (homozygous), c.1295G > A (heterozygous) heterozygous heterozygous