CLINICAL: Which diseases are caused by chromosomal aberration?
Chromosomal aberrations are responsible for a large number of spontaneous abortions before birth and for many diseases. Of all of these, five diseases in particular are widespread. The best known of these is trisomy 21, better known as Down’s syndrome.
These children are conspicuous for their short stature, four-finger furrows on their hands and often diminished intelligence. However, with good treatment and encouragement, they have an almost normal life expectancy. Other trisomy disorders include syndrome (trisomy 13) and Edwards syndrome (trisomy 18), with life expectancy of less than one year for both disorders.
Klinefelter’s syndrome, like trisomies, is one of the numerical chromosomal aberrations. In this disease, male patients have an additional X chromosome and are conspicuous by their pronounced high growth. In contrast, Ullrich-Turner syndrome lacks an X chromosome, so that these patients only have a total of 45 chromosomes. Female patients have malformed sexual organs and remain infertile throughout their lives. – Down syndrome:
- Syndrome vs. Edwards Syndrome:
- Klinefelter’s syndrome:
- Ullrich-Turner syndrome:
