Patient's question:
The patient is 28 years old, and his wife has been pregnant for nearly two months. During a detailed ultrasound examination, it was found to be an empty sac. The doctor said it might be due to a chromosomal problem with either partner and recommended an abortion first. Then, when she becomes pregnant again, an amniocentesis should be performed. What are the characteristics of chromosomal diseases?Doctor's answer:
The first point is abnormal chromosome number (normal chromosomes are 46, male is 46,XY, female is 46,XX), including the recurrence of abnormalities in chromosome number such as 45 or 47, or the formation of trisomy and tetrasomy. In addition to structural abnormalities caused by viral-induced chromosome abnormalities, deletions, translocations, etc., as well as numerical or minor structural abnormalities, they can lead to the enhancement or deletion of many genes, resulting in various different deformities. Chromosome abnormalities are congenital predisposing factors for deformities. For children with unclear factors, intellectual disability, slow development at birth, and natural fetal miscarriage are the fundamental causes.