Chromosomal analysis is otherwise called karyotyping. It is a test that detects the number and structure of a person's chromosome for detecting abnormalities. Chromosomes are thread-like structures within each cell nucleus, and they form the body's genetic blueprint. Amniocentesis is a test done in pregnancy to see chromosomal problems and other genetic problems. Karyotypes reveal the changes in chromosome number and other structural changes like chromosomal deletions, duplications, translocations, or inversions.
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Query: Hi doctor, A single umbilical artery is observed in 22nd week L2 pregnancy ultrasound. All other parameters are fine in relation to the growth of the fetus. I want to know how to deal with this. Can we go for amniocentesis or chromosome study? I also have a low-lying placenta with 15 cm distance fr... Read Full »
Answer: Hi, Welcome to icliniq.com. I have gone through your question and understand the concerns. A single umbilical artery can be associated with chromosomal anomalies, structural anomalies, or can be unassociated with any other anomaly. Since the previous child also had anterior abdominal wall defect, so... Read Full »
Query: Hi doctor, I am a 65 year old transgender female, and I have been on hormone therapy for the past two years. I have had an orchidectomy but not gender reassignment surgery. I recently donated blood, and on the questionnaire, it asked for my biological sex. The person there said that because I was b... Read Full »
Answer: Hi, Welcome to icliniq.com. Every cell in your body has DNA (deoxyribonucleic acid) that defines the genetic makeup. A male is XY and a female is XX. Other than red blood cells, which does not have DNA, rest every cell of the body has DNA. The blood is a mixture of all different kinds of proteins an... Read Full »
Query: Hi doctor, My girlfriend has thalassemia minor trait and I am a healthy individual person. If I get married to my girlfriend, is there a risk of this trait for my future children? Please give me some advice. Thanks a lot. Read Full »
Answer: Hi, Welcome to icliniq.com. Based on your query, my opinion is as follows: Thalassemia inheritance is an autosomal chromosome related. In thalassemia minor, one gene is affected. There is a 50% risk in the next generation of having thalassemia minor, as you are completely normal. Chromosomal analys... Read Full »
Query: Hello doctor,The findings during chromosome breakage study for Fanconi anemia are not in favor of chromosomal breakage syndrome. Is the patient totally free from the Fanconi anemia? Read Full »
Answer: Hello, Welcome to icliniq.com. In Fanconi anemia, there is a presence of birth defects along with severed degree anemia. If such a finding is present, then further work out has to be done for that. I have checked your report (attachment removed to protect patient identity). It is not showing any c... Read Full »