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Abnormal Karyotype #genetics #biology #shorts
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🔶 Basic information: husband 29 years old; wife 28 years old
The patient came to the hospital because of "normal first pregnancy, planned second pregnancy 3 years later, two consecutive spontaneous abortions (10 weeks and 13 weeks respectively), the aborted fetal tissue was lost and could not be traced, the female's biochemical indicators and hormone levels were normal, the chromosome karyotype analysis results were normal, and the male's chromosome results showed abnormalities.
🔶 Review of diagnosis and treatment:
2022-9-13: The woman's peripheral blood was drawn for routine biochemical and hormone levels, and sent for karyotype analysis at the same time.
2022-9-21: Routine biochemical indicators and hormone levels were normal, and the results of AutoVision® analysis indicated that the woman's chromosome karyotype was normal.
2022-10-9: The patient and her spouse went to the genetic clinic for consultation, and the doctor recommended that the man undergo karyotype analysis.
2022-10-15: Based on the results of AutoVision® analysis, the man was a carrier of reciprocal translocation of chromosomes 4 and 12, with breakpoints at 4q31.1 and 12q23, respectively. It was suspected that the patient's previous spontaneous abortion was caused by the balanced structural abnormality of the above chromosomes.
#genetics #biology #science #education #karyotype #shorts
The patient came to the hospital because of "normal first pregnancy, planned second pregnancy 3 years later, two consecutive spontaneous abortions (10 weeks and 13 weeks respectively), the aborted fetal tissue was lost and could not be traced, the female's biochemical indicators and hormone levels were normal, the chromosome karyotype analysis results were normal, and the male's chromosome results showed abnormalities.
🔶 Review of diagnosis and treatment:
2022-9-13: The woman's peripheral blood was drawn for routine biochemical and hormone levels, and sent for karyotype analysis at the same time.
2022-9-21: Routine biochemical indicators and hormone levels were normal, and the results of AutoVision® analysis indicated that the woman's chromosome karyotype was normal.
2022-10-9: The patient and her spouse went to the genetic clinic for consultation, and the doctor recommended that the man undergo karyotype analysis.
2022-10-15: Based on the results of AutoVision® analysis, the man was a carrier of reciprocal translocation of chromosomes 4 and 12, with breakpoints at 4q31.1 and 12q23, respectively. It was suspected that the patient's previous spontaneous abortion was caused by the balanced structural abnormality of the above chromosomes.
#genetics #biology #science #education #karyotype #shorts
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