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Dr. Andrew Rynne
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What does "45,X and 46,XX" on karyotype test indicate?


My wife is female 28 years old. She had one planned abortion and 2 unplanned missed abortion. We did karyotype test and the result is

Blood is cultured. Six metaphases were karyotyped. 3 of them showed 45,X complement remaining showed normal 46,XX. This was confirmed on FISH.

Can you give us the analysis of this report.

Pankaj Shrivastava
Mon, 12 Jan 2015
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Pathologist and Microbiologist 's  Response
Thanks for your query.
Based on your query and reports, my opinion is as follows.
1. Normal genetic component is 23 pairs of chromosomes(46 XX or 46 XY) of which 22 pairs are autosomes and one pair of sex chromosomes.
XX is genotype in females and XY in males.
2. 45 XO(Turners syndrome) means one sex chromosome is missing, such a genotype are phenotypically females with associated abnormalities that is absence of reproductive organs, cardiovascular abnormalities and multi organ involvement occurs.
3. Embryo with this syndrome usually do not survive and develop fully. Only in a few cases it might progress and development fully till term but will have to live with associated abnormalities after birth.
4. Since the two embryos were 45XO, they were incompatible with life and resulted in abortion.
5. Both of you require genetic counseling and go for prenatal testing the next time you plan for pregnancy.
Hope this helps.
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