Symptoms of chromosomal abnormalities?

summary

Of course, chromosomal abnormalities are very bad things. Down's syndrome is also known as trisome 21 syndrome and congenital stupidity. This is the most common chromosome disease in human beings. The incidence rate of neonatal 1/700 ~ 1/600 is the most common cause of mental retardation, accounting for 10% of the cases of severe mental retardation. Seguin (1846) first reported the clinical manifestations of the disease, the symptoms of chromosomal abnormalities? Let's talk about it

Symptoms of chromosomal abnormalities?

Children with Down syndrome have some pathological features at birth, and the symptoms become obvious with age. Craniofacial manifestations of round head, low bridge of nose, maxillary hypoplasia can lead to flat face, mouth is slightly open, tongue hypertrophy with deep fissure, often extending out of the mouth, so it is called tongue like dementia. Epicanthus often covers part of the inner canthus, patients with palpebral fissure can be slightly upward, outward tilt, the formation of Mongolian appearance.

The average body length of the infants at birth is slightly shorter than that of the normal newborns, 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, the palm is wide, and there is only one horizontal line, which is manifested as horizontal palmar fold (through the hand) and other characteristic dermatoglyphic changes, such as short and inward flexion of the little finger, showing a single fold (that is, the fifth finger is two segments). Most of the children were still unable to walk when they were 3-4 years old.

Some patients can see cataract, congenital heart disease or heart disease secondary cerebral embolism and brain abscess, gastrointestinal abnormalities such as duodenal stenosis, atlantoaxial instability, severe exercise can lead to spinal cord compression, the incidence of myeloblastic and lymphoblastic leukemia is higher than ordinary people.

matters needing attention

The children's symptoms included small head, forehead protrusion, microphthalmos, iris defect, corneal opacity, olfactory deficiency, low ear position, cleft lip and palate, capillary hemangioma, polydactyly, finger bending, heel kyphosis, dextrocardia, umbilical hernia, hearing impairment, high muscle tension and severe mental retardation. Most of the children died in early childhood.