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Comparing Karyotyping And Genotype Correlation

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The observations are tabulated and analysed for karyotyping and genotype-phenotype correlation.
Table: 1 SA: Karyotype
Karyotype n 231 Percentage
Normal 194 84
Abnormal 37 16 Numerical 16 43
45,X/46,XX 12 75
45,X/46,XX/47,XXX 2 13
45,X/47,XXX 1 6
46,XX/47,XXX 1 6 XY female and variants 8 22 46,XY female 4 50
45,X/46,XY 3 37.5
46,XX/46,XXY 1 12.5
Structural 13 35
46,X,i(Xq) 3 23.1
46,X,t(X;12) 1 7.7
46,X,t(X;14) 1 7.7
46,X,del(Xq) 1 7.7
46,XX,inv(9) 1 7.7
45,X/46,X,i(Xq) 4 30.7
45,X/46,X,del(Xq) 1 7.7
46,XX/46,XX,del(9q) 1 7.7

From table 1 it is observed that normal karyotype is 194 (84%) and abnormal karyotype is 37 (16%), out of which numerical is about 16 (43%), XY female and variants 8 (22%) and structural 13 (35%). The most commonly observed karyotypes were 45,X/46,XX (12/75%) under numerical abnormality, 46,XY female (4/50%) under XY female and variants and 45,X/46,X,i(Xq) (4/30.7%) and 46,X,i(Xq) (3/23.1%) under structural abnormality.

Table: 2 SA: Genotype - phenotype correlation (n/%)
Features 46,XX
(n 194) CA
(n 37) X mos
(n 16) XY female
(n 4) Y mos
(n 4) Structural
(n 13)
Axillary/pubic hair (n) 194/% 37/% 16/% 4/% 4/% 13/%
Scanty 40/20.6 13/35.1 5/31.2 1/25 3/75 4/30.8
Absent 20/10.3 4/10.9 1/6.2 1/25 - 2/15.4
Normal 118/60.8 13/35.1 6/37.5 1/25 1/25 5/38.4
Absent axillary/scanty pubic hair 9/4.6 3/8.1 2/12.5 - - 1/7.7 scanty axillary/ Absent pubic hair - 1/ 2.7 -

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