DiGeorge syndrome, a genetic disorder of chromosome 22
DiGeorge Syndrome is a genetic disorder that involves the loss of a small part on the 22nd chromosome, position 22q11.21, also known as 22q deletion. It occurs in 1:1,000 pregnant mothers regardless of ages. It causes many forms of abnormalities in children, such as
- Slanted eyes
- Abnormal facial shape
- Short philtrum and small mouth
- Heart problems
- Cleft lip and cleft palate
- Immune deficiency
- Epilepsy
- Low intelligence
All symptoms are caused by abnormalities of the thymus gland. And the most worrying thing is having an impaired immune system. Previously, it was difficult to detect DiGeorge Syndrome in babies during pregnancy. Because it could not be found by ultrasound. Or even amniocentesis to analyze chromosomes cannot be used.
This is because the missing parts are too small so that they cannot be seen under a microscope at a magnification of 1000 times. Before realizing the abnormality, the baby was born with heart problems. Or when the child is 3-5 years old, delayed development will be found. The important thing about DiGeorge Syndrome is that it can happen to mothers of all ages equally. This is different from Down syndrome where the chance of incident is higher in older mothers.
At present, although there is still no way to cure it completely. Only symptomatic treatment can be proceeded. But parents can attend chromosome testing for this disease early in pregnancy. By screening through blood testing or amniocentesis (which must be a high-accuracy examination).
However, if you are a mother who wants to check for abnormalities in your baby in the womb. It’s recommended to get consultation from a doctor. To receive information and understand the test results correctly. Because when the disease is found early, you can quickly prepare for treatment, care, and development in a better direction.
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