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A rare set of circumstances Moscow region

A family from the Moscow region applied. There are two sisters in the family with a difference in age of about 10 years. From birth, the older girl suffered from underweight and short stature; at the age of 3, she was first diagnosed with a severe disease in both eyes, which led to many surgical interventions by the age of 5. By school age, the girl fully entered the normative indicators for height and weight. At present, the child is 13 years old. She has a permanent visual impairment, and is growing and gaining weight normally.

Possibilities and limitations of the trio genome.

A family came from a remote region. Young healthy parents. There is a family history of hereditary diseases (heart disease, bone pathology). The first child was born with gigantism of one limb and a heart defect. The child underwent several surgeries for gigantism of the limb. The second child was born healthy. The family plans to have more children.

"Unexpected" diagnosis. Siberia

A young family came from the Siberian region. The first child was born healthy, and the second has a gross developmental delay (by the age of three he does not stand, does not walk, does not sit, gross underdevelopment of speech). Parents associate the appearance of violations with pneumonia transferred at the age of 5 months. At the age of 3, convulsions joined.


A family from a very remote eastern region of the Russian Federation applied. Parents are physically healthy. The mother's first child from her first marriage is healthy (girl, 4 years old). The father had no children before. The mother's pregnancy with the second child proceeded with peculiarities: the fetus was small, there was oligohydramnios, the child did not move much. 

Two girls Sakhalin

The family was looking forward to the birth of their first child, but the girl was born seriously ill. Various medical examinations did not reveal the cause of the disease. The parents decided to have a second child, but the second girl also had a similar disease.

Girl Krasnoyarsk

A healthy girl was born into a family. In the maternity hospital, the baby underwent neonatal screening, which revealed the presence of cystic fibrosis. However, a further study of the gene for cystic fibrosis did not confirm the diagnosis.

Boy Kaliningrad region

Various tests failed to establish the cause of the disease and the child’s life was at risk. Charity Fund Life Genome financed a comprehensive molecular genetic study of the child and his parents, which allowed to identify the cause of the boy's clinical condition.

Planning the birth Tula region

Grandmothers (both from father’s and mother’s side) died at the age of 51 and 45 respectively from cancer. The doctors believed that the disease was hereditary.

Child 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 very rare cause of a hereditary disease in a boy. Moscow

A family came from Moscow. There are two sons in the family. The older boy is healthy. The parents began to notice that the younger boy by the age of two has a delay in motor and speech development, negative behavioral patterns.

Very rare genetic disease Siberia

In a family of young healthy parents, in which one healthy baby was already growing up, they were waiting for the second child to appear. During pregnancy, the mother suffered several mild acute respiratory infections, and also accidentally (when she did not know about the pregnancy) was vaccinated against the flu. 

Epilepsy in a boy Volga Federal District

The fund was approached by a family in which a baby was born to healthy parents without any external pathological manifestations. The boy's face was unlike his parents (wide mouth, relatively sparsely spaced teeth), but they did not consider this to be anything special. 

A rare disease Siberia

In a family from a remote region of Siberia, a child was born with joint stiffness, muscle weakness, impaired breathing, swallowing, seizures, and developmental delay. An MRI examination of the brain revealed changes.

An unexpected find Siberia

In Siberia, a girl was born in a family with a mild heart defect, multiple mild external anomalies (such as facial asymmetry, etc.), small features of the behavior (closed) and delayed speech development.

Sisters Moscow region

A girl with severe visual impairment was born in a family from a Moscow suburb. The parents were very concerned, consulted and observed her with specialists, the girl underwent several unsuccessful operations.

Carriage of diseases in the mother Moscow

An interesting case was revealed in a family from Moscow: in young healthy parents, the first pregnancy ended in a spontaneous sudden interruption, so the spouses connected the mother's active work during pregnancy. The parents were very worried - they really wanted to have children.

Pregnancy planning Southern region

A very rare situation has developed for a family from the southern region of the Russian Federation. The young couple gave birth to their first child, who died immediately after birth.

Girl Siberia

A family from a remote Siberian region applied. Middle-aged parents were treated for infertility for a long time, they really wanted children.

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