Genetic diseases 2024, December

My child was diagnosed with classical phenylketonuria when he was 11 days old. Genetic testing has been performed and no mutations have been detected. What does this show? B ...…

In my husband's family there was a large number of cases of cancer. On her mother's side, my grandmother suffered from breast cancer, and her 2 daughters suffered from cervical cancer (this is probably not ...…

Hello, I have a question. Both my parents are dead, the cause was cancer - my mother has Hodgkin's lymph nodes, my father has a malignant lymphoma in the head. I have 4 ...…

We have a problem with our husband. We are already a few years after the wedding. We got married as kids because I was pregnant. My husband knew perfectly well that I was not pregnant with him ...…

I, the father, have the blood type ABRh +, wife BRh +, and our daughter BRh-. Is it possible that our child has inherited a negative blood group?…

My ex-boyfriend demanded a DNA paternity test in court. I agreed because I was sure he was the father. A saliva swab was taken from the cheek for the examination. Recently ...…

Is alcoholism genetically transmitted?…

My husband suffers from azoospermia, I know he needs to do a karyotype, AZF and CFTR test. Please tell me, do I also need to undergo any genetic tests? J ...…

What is the probability of my daughter (2.5 years) developing bronchial asthma if my husband - her dad and her great-grandmother (and grandmother ...…

Should my partner and my partner do genetic tests before planning a baby? I am in a relationship with my distant cousin (common ancestor is great-grandfather ...…

Hemimelia is a birth defect characterized by the absence of all or part of the distal part of the lower or upper limb. A person suffering from hemimelia must ...…

Angelman syndrome is a rare genetic disease, the essence of which are changes in the functioning of the nervous system. Patients with Angelaman syndrome have a characteristic laugh ...…

Juvenile polyposis is a genetic disease that primarily affects the digestive system. Untreated, it can lead to the development of cancer, for ...…

Phakomatosis, or dermatological and nervous diseases, or neuroectomesodermal dysplasias, are congenital developmental disorders mainly affecting the skin and the nervous system ...…

Achondroplasia is a disease that is caused by a single gene mutation. In patients with this unit, the most notable thing is the shortage of growth, symptoms and ...…

Hypertelorism is the excessively increased distance between the paired organs of the human body. The most visible and noticeable to those around you is hypertelorism ...…

The symptoms of cystic fibrosis - an incurable genetic disease - are not always properly read by doctors - and too late diagnosis significantly reduces the quality ...…

Do you know how the werewolf syndrome (Hypertrichosis), elephantiasis, Bloom or Cockayne syndrome manifest themselves, what is Treacher Collins or Proteu syndrome ...…

What is the treatment of muscular dystrophy? First of all, muscular dystrophy requires rehabilitation as soon as possible. The goal is to alleviate the symptoms of ...…

Myotonic dystrophy (Steinert's disease) is the most common muscular dystrophy. Progressive loss of muscle strength and muscle wasting are the main, but not the only, problems ...…

Ondine's Curse, or Congenital Central Hypoventilation Syndrome, is a rare genetic disease in which breathing may stop during sleep, and ...…

We inherit not only the color of our eyes or hair. You can also get a disease in the genetic package. Some genetic diseases are only passed on to descendants in ...…

Sotos syndrome, or cerebral gigantism, is a rare syndrome of birth defects that manifests itself as abnormalities in both physical and mental development ...…

Chediak-Higashi syndrome is a rare autosomal recessive defect of the immune system that usually develops symptoms after birth ...…

Cat scream syndrome is a rare genetic disease. Its characteristic symptom is the crying of a baby, which resembles a cat meowing - hence the common name with ...…

Brown diabetes, or primary hemochromatosis, is a serious metabolic disease. Brown diabetes can lead, among others, to for cardiomyopathy and irreversible ...…

Werner syndrome is a genetically determined disease entity characterized by premature aging. His symptoms usually appear in the period of ...…

Peutz-Jeghers syndrome is a genetic disease whose first symptom is often unexplained skin changes. What other symptoms are there in this disease? For ...…

Di George's syndrome is a birth defect caused by a loss of DNA material. Underlying this genetic disease is the loss of a fragment of chromosome 22, which results in a deficiency ...…

People with hemophilia are at risk of developing complications. The first may occur when you try to treat a patient. A person with hemophilia with ...…