Moscow region

Young parents have a child with multiple developmental defects (heart, limbs, central nervous system), the family is planning the birth of a second. Genetic studies were repeatedly carried out, which the family paid for on their own. A major chromosome breakage was found, inherited from a healthy father. It appeared that the mother had no genetic abnormalities. The family approached Charity Fund Life Genome with a request to fund a complete genome study for all three family members. It was revealed that the mother has a defect in the intron gap in the same area of the chromosome, which is also damaged in the chromosome of the father and child. These abnormalities could not be determined with the help of other genetic tests. The child inherited a gene defect from both his father and mother, which caused a severe autosomal recessive disorder. With this information, a married couple is no longer afraid of having a second child.

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