Chromosomes are carriers of genetic information, and there are usually 23 pairs. Chromosomal abnormalities occur because of a missing, extra, or irregular chromosomal DNA piece.
Chromosomal abnormalities differ in location and size, and they cause different dysmorphic facial features, congenital disabilities, or growth and development delays. There are many chromosomal abnormalities, but the most common ones are down syndrome (Trisomy 21), Klinefelter syndrome, Edward’s syndrome (Trisomy 18), Turner syndrome, and Trisomy 13.
Doctors can sometimes detect chromosomal abnormalities before birth. This is done mainly through amniocentesis, where the doctor analyses an amniotic fluid sample. They can also use chronic villus sampling, which involves sampling and testing the placenta.
In most cases, there is not usually a treatment for chromosomal abnormalities, but doctors can use the following interventions.
Genetic Counseling
If the doctor finds a chromosomal abnormality in your child, they will refer you to a genetic counselor. The counselor explains the condition, its short and long-term features, and the interventions that might prevent the abnormality from occurring in other family members.
Occupational Therapy
This is among the most common interventions. Occupational therapy helps children learn certain daily living skills like bathing, eating, getting dressed, and school-related activities like writing.
Physical Therapy
A physical therapist helps children develop muscle strength and better motor skills to help them accomplish daily skills.
Cardiovascular Medicines
This treatment for chromosomal abnormality is used for specific conditions. The prescribed medication helps prevent enlargement of a baby’s aorta plus other blood vessels.
Testosterone Replacement Therapy
This is the most common Klinefelter syndrome treatment that starts when your child hits puberty. It helps stimulate changes naturally occurring at this stage, like voice breaking, increased muscle mass, and growing body and facial hair.
The Focus Foundation is one of the well-known research-based agencies that help identify chromosomal abnormalities and help families through the journey. Contact them at thefocusfoundation.org to learn about the best Klinefelter syndrome treatment and treatment for other chromosomal abnormalities.
