Common "Genetic Mutation" queries answered by top doctors | iCliniq

Genetic Mutation

Genetic mutation is a change in the sequence of DNA that occurs during cell division, radiation exposure, exposure to mutagens, or viral infection. Germline mutations occur in the reproductive cells like the sperm or egg, thereby passing onto the offspring. In contrast, somatic mutation takes place in the body's cells and so does not pass on. Cystic fibrosis, sickle cell anemia, etc., are few examples of inherited genetic disorders which involve single gene mutation.

Recently Answered Questions Recently Answered Questions

All the answers published in this website are written by verified medical doctors, therapists and health experts. The Content has been moderated by iCliniq medical review team before publication. Post your medical clarifications on iCliniq by choosing the right specialty and get them answered. Your medical queries will be answered 24/7 by top doctors from iCliniq.

I would like to know the link between genetics and obesity. Kindly guide.

Query: Hello doctor, I am a 35-year-old woman interested in understanding the connection between genetics and obesity. I have come across this mutation called ATBF1 and its potential impact on weight. Can you break down how this gene mutation influences obesity, and is there any way it might affect weight ...  Read Full »


Dr. Sugreev Singh

Answer: Hello, Welcome to Icliniq.com. I can understand your concern. There are no potential links between obesity, ATBF1, and weight gain. Weight can be associated with other hormonal changes in the body such as TSH (thyroid stimulating hormone) which is from the thyroid gland. When TSH increases, then ...  Read Full »

Can reduced testes blood supply, cause mutations?

Query: Hello doctor, Can a slight reduction in blood supply and poor blood circulation in both testes increase the risk of de novo single gene mutation present in a normal motile sperm? Will fertilization of this type of sperm result in a child with de novo single gene disorder with the sole reason being l...  Read Full »


Dr. Karthik Rajan

Answer: Hello, Welcome to icliniq.com. What you have mentioned is correct. However, since the paternal DNA (deoxyribonucleic acid) is normal, the mutation will be affecting a single sperm or those derived from a single germ cell in the case of single gene mutations. It is impossible to know whether the g...  Read Full »

Can mobile radiation harm sperm and testicular cells?

Query: Hello doctor, Yesterday, unfortunately, I slept with my mobile phone under my testicles. I slept like that for five hours. I have heard of mobile radiations causing harm to the sperm and testicular cells by affecting the DNA. My problem is that my wife and I are both 34 years old and are planning fo...  Read Full »


Dr. Ashok Kumar

Answer: Hello, Welcome to icliniq.com. I read your query and understand your concerns. First of all, I would like to inform you that spermatogenesis is a long process and the sperm cells produced already may be available for the next two and a half months (72 days). So, considering this fact that you had...  Read Full »

Can epidermal nevus undergo genetic mutation?

Query: Hello doctor, You were wonderful in allaying some health anxiety over some skin issues several months ago. So, I thought I would consult with you on another question pertaining to my son. Unfortunately, a combination of my health anxiety and the big mistake of searching online has my mind imagining ...  Read Full »


Dr. Jyotisterna Mittal

Answer: Hello, Welcome to icliniq.com. A solitary epidermal nevus is very common and does not pose any kind of serious health concern. Neither is a biopsy required. You are right. Any associated symptom should have been present since birth or early childhood in this case. Even if it is passed on to the f...  Read Full »

What to do if my double marker test comes back abnormal?

Query: Hi doctor, I am 13 weeks pregnant. Last week, I underwent an NT scan report, and it was normal, and I gave a double marker blood test. Yesterday from the hospital, they called me for a blood test because the first report shows abnormal. I am so scared whether the second time the double marker test ...  Read Full »


Dr. Tinu Zachariah

Answer: Hello, Welcome to icliniq.com. First of all, congrats on your pregnancy. Let me clarify that double marker is only a screening test. It is not a confirmatory test. Double markers are not repeated if they are showing a high risk. So if the lab has asked for a second sample, it may be due to some ot...  Read Full »

What medical testing could detect an autism spectrum disorder?

Query: Hello doctor, Is it possible to diagnose ASD syndrome (autism spectrum disorder) through an MRI, a set of DaT Scan images, genetic test analysis, or other procedures? Kindly help.  Read Full »


Dr. Aida Abaz Quka

Answer: Hello, Welcome to icliniq.com. I understand your concern and explain that there is no specific test to diagnose ADHD (attention deficit hyperactivity disorder). Anyway, a genetic test can be tried because a mutation in the TPH2 (Tryptophan hydroxylase 2) gene on chromosome ...  Read Full »

I am pregnant with a positive mutation test. Kindly help.

Query: Hello doctor, I had positive blood tests for the following mutations: factor XIII (heterozygous) and PAI-1 (675: 4G/4G, homozygous, and 844: AA, homozygous). My tests came negative (so there are no genetic mutations) for factor V Leiden, factor II (G20210A), and MTHFR. I am now 24 weeks pregnant a...  Read Full »


Dr. Goswami Parth Rajendragiri

Answer: Hello, Welcome to icliniq.com. The mentioned homozygous mutation can lead thrombosis event. The thrombotic event can lead to abortion. But your pregnancy is going well. So you might not have problems during your pregnancy. The thrombotic event can lead to placental insufficiency and intrauterine d...  Read Full »

I am a 17-year-old female diagnosed with high testosterone levels and have masculine voice. Why?

Query: Hello doctor, I am a 17-year-old female diagnosed with too high testosterone levels. I have hormonal problems, and I desperately try to stop the symptoms. I cannot stand this anymore, and I need a way to prevent this from progressing. The symptoms are acne, weight gain, menstrual changes, excessive ...  Read Full »


Dr. Uzma Arqam

Answer: Hello, Welcome to icliniq.com. You have not mentioned your menstrual history, which is important, but at least I can predict that you had regular menses before having high testosterone levels. Are you on any medications, or have you been treated for any chronic disease? Drug side effects, genetic ...  Read Full »

My son is 7 years old, and has genetic mutation. What can I do?

Query: Hello doctor, My son is seven years old and has a genetic mutation. He is unable to stand properly, but he usually walks fine. I have sent you the reports. I request your guidance in his treatment. Thank you.  Read Full »


Dr. M. Pradeep Kumar

Answer: Hi, Welcome to icliniq.com. I went through the history and the report (attachments removed to protect the patient's identity). The diagnosis of the child is Duchenne muscular dystrophy. It is a progressively weakening muscle abnormality. I hope this helps. Thank you.  Read Full »

Can cafe-au-lait spots cause neurofibromatosis?

Query: Hi doctor, I have noticed three to five cafe-au-lait spots in my body in which three of them are confirmed, the other two were light and was not examined by my dermatologist. I do not have enough spots to be diagnosed with neurofibromatosis 1, but I was scared that I could be affected with neurofib...  Read Full »


Dr. Mahmoud Ahmed Abdelrahman Abouibrahim

Answer: Hi, Welcome to icliniq.com. Having some Cafe-au-lait spots is usually a benign phenomenon, that you need not get worried about it. In order to diagnose NF (neurofibromatosis), there are many criteria that you will not meet. Please send me some photos of the spots in order to be fully reassured. Plea...  Read Full »

ask-doctor-img Ask a Doctor Online

* Your first query consult is free!

Search for a Health Issue



Disclaimer: No content published on this website is intended to be a substitute for professional medical diagnosis, advice or treatment by a trained physician. Seek advice from your physician or other qualified healthcare providers with questions you may have regarding your symptoms and medical condition for a complete medical diagnosis. Do not delay or disregard seeking professional medical advice because of something you have read on this website. Read our Editorial Process to know how we create content for health articles and queries.