A chromosomal anomaly is a change to a child’s genetic material or DNA, which alters the baby's development before birth. This can include extra, missing or irregular chromosomes.
DNA is the building block of life and responsible for everything in your body, including eye color, organ development, height, facial features and motor development. A chromosomal anomaly is a congenital (present at birth) disorder that causes irregularities in the DNA makeup, such as extra or missing chromosomes. These anomalies are also known as chromosomal disorders or mutations.
Anomalies occur while a baby is developing in their mother's womb, and an error takes place during cell division. Typically, a child has 23 pairs of chromosomes, or a total of 46 chromosomes, in each cell. Children normally receive 23 pairs from the egg and 23 pairs from the sperm.
There are several types of chromosomal anomalies, including numerical and structure anomalies.
Numerical abnormalities occur when there is either a missing chromosome (monosomy) from a pair, or a child has more than two chromosomes of a pair (trisomy). The following are examples and some of the characteristics related to the disorder.
Structural abnormalities include missing sections or duplications of chromosomes. Transfers (translocations) occur when sections move to another chromosome. Inversions occur when a chromosome breaks off and reattaches upside down. Rings will form when a chromosome section breaks off and forms a separate circle with or without the loss of material. The following are examples and some of the characteristics related to the disorder.
Some of the possible causes of a chromosomal anomaly include:
Symptoms depend on the type of chromosomal anomaly, and can include the following: