Symptoms of 13 chromosomal abnormalities

summary

13 trisomy syndrome, also known as Patau syndrome, has a 1/2000 incidence rate of live births, more women than men, and the average age of childbirth is 31. Chromosomal abnormalities can lead to a lot of situations, which are not conducive to pregnant women themselves and the fetus, so we still need to cooperate with prenatal examination to avoid all terrible situations. Let's talk about the symptoms of 13 chromosomal abnormalities

Symptoms of 13 chromosomal abnormalities

(1) 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 position of the ear is low, oval, the earlobe is small, the iris is gray white spots, namely Brushfield's spots, the fontanel is obvious, and the closure is late.

(2) 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. Moro in infants is slow to respond or cannot be induced, and it is difficult to eat. Intelligence and mental development of the children were obviously abnormal. IQ ranged from 20 to 70, with an average of 40 to 50. Most of them were below the Gaussian curve. 90% of the children would speak when they were 5 years old. Most of them are quiet, docile, approachable and can live up to 40 years.

(3) some patients have cataract, congenital heart disease or heart disease secondary cerebral embolism and brain abscess, gastrointestinal abnormalities such as duodenal stenosis, atlantoaxial joint instability, severe exercise can lead to spinal cord compression, and the incidence of myeloblastic and lymphoblastic leukemia is higher than ordinary people. Alzheimer's disease was almost common in patients over 40 years old, including inattention, lack of speech, poor visual spatial orientation, decreased memory and judgment, and seizures.

matters needing attention

1. Keep optimistic and happy. Long term mental tension, anxiety, irritability, pessimism and other emotions, will make the cerebral cortex excitation and inhibition process of imbalance, so we need to maintain a happy mood. 2. Life control, pay attention to rest, work and rest, life orderly, keep optimistic, positive, upward attitude towards life. We should have regular tea and dinner, regular living, no overwork, cheerful mood, and develop good living habits.