22q11.2缺失障碍 (DiGeorge Syndrome and Velo-Cardio-Facial Syndrome)
22q11是什么.2删除?
Except for mature red blood cells, every cell in the body has chromosomes. Each chromosome is made of protein and deoxyribonucleic acid (DNA). DNA contains the specific instructions that make living creatures unique. Human DNA is organized as 23 pairs of chromosomes. 一对, 性染色体, consists of either two X chromosomes (XX), 结果是一个女孩, or one X and one Y chromosome (XY), 生了个男孩. The other 22 pairs of chromosomes are numbered 1 through 22.
22q11.2缺失综合征 (also known as DiGeorge syndrome and velo-cardio-facial syndrome) is a disorder caused by the deletion of a small piece of chromosome 22. 22q11.2 identifies the specific chromosomal location where there is a microdeletion.
How do you test for 22q11.2删除?
A molecular test called fluorescence in situ hybridization (abbreviated as FISH) is used to detect and locate a specific DNA sequence on a chromosome. It can be used to determine whether there is a 22q11.2删除. If the FISH test is negative but there are symptoms of the disease, further chromosomal studies may be needed.
What are the symptoms of 22q11.2删除?
Symptoms, including those listed here, may vary from person to person and can be mild or severe:
- 心脏缺陷
- 自身免疫性疾病
- 腭裂
- Developmental issues and learning disabilities
- 面部特征
- 喂养问题
- 听力损失
- Hypoparathyroidism (low parathyroid hormone)
- 易受感染
- 肾脏异常
- 脊柱侧凸
如果我的孩子有22q11.2缺失综合征, what is the risk for my other children or others in our family?
22q11.2缺失综合征 affects an estimated 1 in 4,000 to 1 per 7,000年出生. Most children with a 22q11.2删除 are the first person in their family to have that problem as a result of a random event during pregnancy. Affected people may pass the syndrome to their children so it’s helpful to test the parents.
当有人拿着22q11.2删除 has children of their own, there is a 50-50 chance of passing along a copy of chromosome 22 with that deletion with each pregnancy. 这也意味着, 当然, that there is an equal chance that the next child will not inherit the deletion.
If health care professionals determine that neither parent has 22q11.2缺失综合征, then the risk for others in the family including their other children (siblings of the child with the 22q11.2删除) is no greater than anyone else in the world, which is estimated at 1 in 4,000比1 / 7,000年出生.
