Chromosomal abnormalities
Introduction
Introduction Chromosomal malformation refers to the carrier of genetic material in cells - the number and structural abnormalities of chromosomes. It often manifests as fetal multiple organ multisystem malformations, but many chromosomal abnormalities do not exhibit any morphological and structural abnormalities. However, there will be a certain ratio of fetal malformations during the offspring. The chromosome number and structure of each organism are relatively constant, but under the influence of natural conditions or artificial factors, the number and structure of chromosomes may change, resulting in biological variation. Chromosomal aberrations include chromosome number variation and chromosome structural variation.
Cause
Cause
The pathogenesis of chromosomal aberrations is unknown, probably due to the absence of chromosome segregation in the late stage of cell division, or the breakage and reconnection of chromosomes under the influence of various factors in vitro and in vivo.
1. The mother is too old when she is pregnant.
The older the pregnant mother, the greater the likelihood that the offspring will develop chromosomal disorders.
2, chromosome aberrations
Chromosomal aberrations are related to aging of eggs.
3, radiation
Human chromosomes are very sensitive to radiation, and the risk of chromosomal aberrations in their offspring increases when exposed to radiation.
4, viral infection
Viruses such as infectious mononucleosis, mumps, rubella and hepatitis can cause chromosome breaks and cause fetal chromosome aberrations.
5, chemical factors
Many chemical drugs, antimetabolites, and poisons can cause chromosomal aberrations.
6, genetic factors
Parents with chromosomal abnormalities may be passed on to the next generation.
Examine
an examination
Related inspection
Screening of "fetal neck zona pellucida" chorioamnosis amniotic fluid cell culture chromosome examination amniotic fluid cell culture chromosome
Maternal amniocentesis can detect chromosomal abnormalities in amniotic fluid cells, and early screening of children with Down syndrome and other chromosomal hypoplasia.
Chromosome examination can detect the amniocytes or chromosomes of patients using the fluorescent in situ hybridization technique.
Mainly based on the characteristic symptoms, signs and chromosome examination of the child. Detection of chromosomal abnormalities can be diagnosed.
Diagnosis
Differential diagnosis
1. Quantitative aberrations: including euploid and aneuploidy aberrations, increased chromosome number, decrease and appearance of triploids.
2. Structural aberrations: chromosomal deletions, translocations, inversions, insertions, duplications, and circular chromosomes. It can also be divided into autosomal aberrations, such as Down (21 trisomy) syndrome, Patau (trisomy 13) syndrome and Edward (18 trisomy) syndrome, as well as sex chromosome aberrations such as Turner syndrome (XO) and Congenital testicular hypoplasia.
