Down syndrome (also called Trisomy 21) is a genetic disorder caused by the presence of an extra copy of chromosome 21. Normally, a person has 46 chromosomes (23 pairs), but in Down syndrome, there are 47 chromosomes due to the extra chromosome 21.
![]()
Causes
-
Nondisjunction: Most common cause; during cell division, chromosome 21 fails to separate properly.
-
Translocation: A piece of chromosome 21 attaches to another chromosome.
-
Mosaicism: Some cells have an extra chromosome 21, while others are normal.
![]()
Common Features
-
Flat facial profile
-
Upward slanting eyes
-
Small ears and mouth
-
Short neck
-
Poor muscle tone (hypotonia)
-
Short stature
MBH/AB