What disease can chromosome abnormality get

summary

Chromosome abnormality is not a very common disease, also known as chromosomal hypoplasia, once it occurs, it will lead to a variety of diseases. Let's take a look at what disease chromosome abnormalities can get.

What disease can chromosome abnormality get

First of all, children with Down syndrome have some pathological features at birth, and the symptoms become obvious with age. The craniofacial manifestations are round head, low bridge of nose, and maxillary hypoplasia, which can lead to flat face, slightly open mouth, hypertrophy and deep fissure of tongue body, often extending out of the mouth, so it is called lingual dementia. Epicanthus often covers the part. In patients with epicanthus, the palpebral fissure can be slightly tilted upward and outward to form a Mongolian shape. The face and ears are low and oval. The earlobe is small. The iris gray white spots, namely Brushfield's spots, can be seen. The fontanel is obviously closed late.

Secondly, the average height of the newborn is slightly shorter than that of the normal newborn, and the difference becomes more obvious with the increase of age. The height of the adult patients is rarely higher than that of the normal 10-year-old children. The hand is short and thick, and the palm is wide with only one transverse line. It is characterized by horizontal palmar fold (through the hand) and other characteristic dermatoglyphic changes, such as short and inflected little finger with a single fold (that is, the fifth finger is two segments), decreased muscle tension. Most of the children are still unable to walk at the age of 3-4 years, and their intelligence and mental development are obviously abnormal. The IQ is 20-70, with an average of 40-5 More than 0 is below the Gaussian curve, and 90% of the children do not speak until they are 5 years old. Most of them are quiet, docile, approachable and can live up to 40 years.

Finally: some patients can see cataract, or induce congenital heart disease, but also lead to cerebral embolism and brain abscess, gastrointestinal abnormalities, such as duodenal stenosis, atlantoaxial joint instability, severe exercise can lead to spinal cord compression, the incidence of myeloblastic and lymphoblastic leukemia is higher than that of ordinary people, and Alzheimer's disease is almost common in patients over 40 years old Concentration, few words, poor visuospatial orientation, memory and judgment decline and seizures.

matters needing attention

In order to better find chromosomal abnormalities, prenatal physical examination should be carried out regularly. If the situation is serious, pregnancy should be terminated in time.