Trisomy 8 . mosaic syndrome

The article was written by Doctor Ha Thi Lien - Vinmec High-Tech Center

The expression of trisomy 8 mosaic syndrome can be highly variable depending on the proportion of cells with trisomy 8 and the presence of this cell line in different functional organs. This syndrome may sometimes be referred to as Warkany Syndrome 2.

1. What is trisomy 8?

Trisomy 8 (T8mS) mosaicism is an abnormal number of chromosomes. Normal people have 2 chromosomes 8, but trisomy 8 has 3 chromosomes 8. Mosaicism occurs when only a few cells in a person's body carry 3 chromosomes, while The remaining cells have 2 chromosomes.
Mosaic trisomy 8 is a rare syndrome, the incidence is higher in men than in women. T8mS is thought to occur in 1/25,000-50,000 fetuses. The likelihood of T8mS occurring in pregnancies is extremely low.

2. What causes trisomy 8?

Trisomy 8 mosaicism occurs due to an error in the division of the zygote. Cells do not divide at the same time and chromosomes do not segregate during meiosis.

phân chia hợp tử — Thể khảm tam nhiễm sắc thể 8 xảy ra do sự sai sót trong quá trình phân chia của hợp tử

Depending on what time the error occurs in the development of the zygote or fetus, the extra chromosome 8 may be present in different tissues and organs. The majority of cases are incidental during the development of the zygote.

3. Symptoms of Trisomy 8

Symptoms of T8mS can vary greatly from case to case. Some infants are born with severe, clinically significant T8mS expression, while others have no symptoms. Some of the symptoms may include:
Longer-than-average head Deep, wide eyes Long tongue Wide forehead Narrow shoulders Narrow pelvis Deep wrinkles on hands and feet Problems with throat and mouth Problems with joints Spine problems such as scoliosis Kidney problems Heart problems Skeletal and structural abnormalities Underdeveloped genitals Not intellectual development Abnormal stature (very short or very short) high)

Vẹo cột sống — Triệu chứng của T8mS có thể khác biệt nhiều ở mỗi trường hợp mắc bệnh khác nhau

T8mS does not always affect intellectual development. Intellectual development will depend on the health of the child at critical stages of development. Some other symptoms of T8mS can cause a child to have speech or learning delays. However, these delays are due to the child's limitations and physical functioning and not to the child's neurological problems. There are some cases of T8mS that do not seem to be related to intellectual disability.

4. How is trisomy 8 diagnosed?

Cases of this syndrome often go undiagnosed because there are no obvious symptoms. In some cases when T8mS is suspected in a child or adult, your doctor will be able to take a blood or skin sample for testing. However, these tests cannot determine the severity of symptoms, but only whether the T8mS form is present in the cell lines.

5. Treatment for Trisomy 8

Currently there is no cure for T8mS, however treatment is possible for some symptoms. Treatment can vary and depends on the severity of symptoms.
Symptoms that do not affect health problems such as facial deformities can be operated on. In some cases, heart surgery is also recommended. Nasopharyngeal problems can also be surgically treated for slurred speech.

Phẫu thuật nội soi cắt thùy trái tuyến giáp — Hiện nay phẫu thuật là phương pháp được sử dụng để điều trị cho các triệu chứng của T8mS

6. Prognosis for mosaic trisomy 8

If all cells in the body have an extra chromosome 8, this is a type of trisomy 8. Trisomy 8 usually dies during pregnancy and often leads to miscarriage in 3 first month of pregnancy.
Trisomy 8 mosaicism is when only a few cells have an extra chromosome 8. Mosaic can have a normal lifespan if complications of this form do not develop.

7. Complications of mosaic trisomy 8

People with T8mS are often likely to have some types of cancer such as Wilms' tumors – kidney cancer, myelodysplasia, myeloid leukemia...
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Bài viết này được viết cho người đọc tại Sài Gòn, Hà Nội, Hồ Chí Minh, Phú Quốc, Nha Trang, Hạ Long, Hải Phòng, Đà Nẵng.