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What Does Female Molecular Karyotype With An Interstitial Deletion Mean?
Hi, may I answer your health queries right now ? Please type your query here...My daughter has been diagnosed with a female molecular karyotype with an interstitial deletion of approx 10.3 megabases on the long arm of one chromosome 4 at cytogenetic bands q13.2q2q1.21. What does that mean and is there anything we can do about it?
Wed, 8 Apr 2020
Hi,
Usually we analyse a genotype on the clinical background, which is missing in the query. Anyhow I will throw some highlights. The report indicates that, out of the total 23 pairs of chromosomes that we have, a small part of 4th one is missing for her. Usually we order this test when there are some abnormal facial appearance or skeletal anomalies.
These children may also develop abnormalities like short stature, developmental delay, seizure, heart defect. But the proportion and severity of features vary among patients. Your doctor will discuss everything in details with you. The greatest advantage of getting such a diagnosis is prenatal diagnosis in next pregnancy- means, we can do test whether new baby is affected or not within first 3 months of pregnancy.
Hope I have answered your question. Let me know if I can assist you further.
Regards,
Dr. Muhammed Aslam TK, Pediatrician
Usually we analyse a genotype on the clinical background, which is missing in the query. Anyhow I will throw some highlights. The report indicates that, out of the total 23 pairs of chromosomes that we have, a small part of 4th one is missing for her. Usually we order this test when there are some abnormal facial appearance or skeletal anomalies.
These children may also develop abnormalities like short stature, developmental delay, seizure, heart defect. But the proportion and severity of features vary among patients. Your doctor will discuss everything in details with you. The greatest advantage of getting such a diagnosis is prenatal diagnosis in next pregnancy- means, we can do test whether new baby is affected or not within first 3 months of pregnancy.
Hope I have answered your question. Let me know if I can assist you further.
Regards,
Dr. Muhammed Aslam TK, Pediatrician
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