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Table 1 In 6 cases the CGG repeat number was within the range 41–54 CGG repeat (gray zone), and in 9 cases we found FMR1 premutation (55–200 CGG repeat). In 4 cases we found differences in both alleles, one was a premutation allele, and the other allele showed a repeat number belonging to the gray zone

From: Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

Family No Code CGG repeat number with praemutation caused POF-POI Allel number with premutation or gray zone Premutation (PM) or gray zone (GZ) Premutation with paternal (p) or maternal (m) origin Original paternal allel Original maternal allel Repeat number expansion AGG interruptions (n) Full mutation in family Family member with full mutation
1 191 30/91 1 PM m 30 91 no 2 91-- > 200 son
2 252 41/55 2 PM and GZ p (PM) m (GZ) 55 41 no 0   
3 258 22/79 1 PM p 75 22 75-- > 79 1 75-- > 200 brother
4 276 22/42/52 (mosaic) 1 GZ p 40 21 40-- > 42/ 40-- > 52 3   
5 296 50/82 2 PM and GZ p (PM) m (GZ) 82 49 no 0   
6 311 52/76 2 PM and GZ p (PM) m (GZ) 52/64/76 mosaic 52 no 3   
7 310 29/58 1 PM p 58 29 no 3   
8 327 29/42 1 GZ p 42 29 no 3   
9 365 22/46 1 GZ p 46 23 no 3   
10 367 29/90 1 PM p 88 30 88-- > 90 2   
11 377 23/45 1 GZ p 45 23 no 3   
12 372 30/42 1 GZ p 42 29 no 2   
13 375 23/41 1 GZ m 23 41 no 3   
14 431 21/74 1 PM p 70 21 70-- > 74 0   
15 436 30/89 1 PM p 87 exit 87-- > 89 2 87-- > 200, 133-- > 200 other family member
  1. FMR1 gene CGG repeat numbers associated with POF/POI, allels with premutations and grey zones, and paternal/maternal origin
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