Symptoms of chromosome 17 abnormalities

summary

Chromosome is a carrier of genetic information, but all cells in the body may have some abnormal phenomena, mainly manifested in structural and numerical abnormalities, such as Down syndrome, Turner syndrome and so on. So what are the symptoms? Let's talk about it now.

Symptoms of chromosome 17 abnormalities

13 trisomy 13: trisomy trisomy 13 (syndrome 13), also known as Patau syndrome, has a 1/2000 incidence rate of live women, more than women, and the average age of the child is 31 years. 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.

18 trisomy 18: the incidence rate of live infants with trisomy 18 syndrome (trisomy 18 syndrome) is more than that of females. The average age of the patients is 34 years. The children presented with growth retardation, ptosis, eyelid deformity, low ear position, small mouth, small chin, skin spots, index finger exceeding middle finger and clenching fist, syndactyly, rocker bottom feet, large and short toes, ventricular septal defect, umbilical hernia or inguinal hernia, short sternum, small pelvis and increased muscle tension, occasional seizures, severe mental retardation, etc, They often die in early infancy.

Cat barking syndrome: it is caused by the deletion of the short arm of chromosome 5. Several weeks to several months after birth, the baby appeared kitten cry, severe mental retardation, eye distance too far, epicanthal folds, short head deformity, full moon face, anti congenital follicular blepharoplasty distortion, micrognathia, hypotonia and strabismus.

matters needing attention

When it comes to chromosomes, many people are familiar with them. Chromosomes are an important carrier of our genetic genes. Parents' genes are usually passed on to their children through chromosomes. If there are abnormalities in the sex chromosomes, then the children may have some genetic diseases. Therefore, for the health of the fetus and baby, pregnant mothers usually have to carry out chromosome examination, But many people don't know much about chromosome testing.