Table 2 Results of DECIPHER database query related to patient phenotype
DECIPHER Patient number | gender | Chromosome position (GRCh37) | size | Geneticmode/ genotype | pathogenicity | phenotype |
|---|---|---|---|---|---|---|
381,702 | 46,XX | chrX: 11,091–15,606,375 | 15.60 Mb | Unknown/heterozygo us repetition | Potentially pathogenic | Ovarian dysfunction, spontaneous abortion |
287,181 | 46,XX | chrX: 150,501,252–155,960,418 | 5.46 Mb | Unknown/ Loss of heterozygosity | pathogenetic | Ovarian insufficiency |
359,210 | 46,XX | chrX: 140,449,718–155,960,418 | 15.51 Mb | Unknown/ Loss of heterozygosity | pathogenetic | Ovarian insufficiency |
381,702 | 46,XX | chrX : 152,645,554–156,003,242 | 3.36 Mb | Unknown/ Loss of heterozygosity | pathogenetic | Ovarian dysfunction, Spontaneous abortion |
409,164 | 46,XX | chrX : 154,892,463–155,331,063 | 438.6Kb | Unknown/ Loss of heterozygosity | uncertain significance | Hypogonadis m, hearing impairment ovarian insufficiency |