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Table 2 Frequency of MTHFR polymorphism in the cytogenetic profile of case group females

From: MTHFR (C677T) polymorphism and its association with cytogenetic and clinical profile in individuals with primary amenorrhea

Sr. no.

Karyotype

MTHFR (C677T) polymorphism

CC (n = 22)

CT (n = 11)

TT (n = 12)

1

Normal female karyotype (n = 26)

12

8

6

2

Male karyotype (n = 4)

1

2

1

3

Turner syndrome (n = 3)

0

0

3

4

Mosaicism*

(n = 2)

1

0

1

5

Turner variants**

(n = 2)

2

0

0

6

Normal variants*** (n = 8)

6

1

1

  1. *mos 45,X[10]/46,XY[90] and mos 45,X[84]/47,XXX[16]
  2. **46,X,del(X)(p22.2) and 46,X,i(X)(q10)
  3. ***46,XX,9qh+ and 46,XX,9qh+,21ps+