Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance with a small nose and an upward slant to the eyes, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. Individuals with Down syndrome may also be born with various health concerns, such as heart defects or digestive abnormalities, as well as short stature and a single deep crease across the centre of the palm. They also have an increased risk of developing gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukaemia, skin problems, and Alzheimer disease. Down syndrome is the result of three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited.

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes.

We are here for you.

Dr. Chayim Schell-Apacik is a specialist in clinical genetics with over three decades of experience in supporting patients. We offer individualised evaluations, genetic consultation, and testing with the goal of providing you with genetic information that presents choices and minimises uncertainty, empowering you to make decisions that are most beneficial for you. Please contact us, to find out more.

What is genetic testing?

Genetic testing – sometimes called genomic testing, finds changes in the genetic material that can cause health problems. It is mainly used to diagnose rare and inherited health conditions and some cancers.
You may be offered a genetic test because your doctor thinks

• you or your child might have a health condition caused by a change in the genetic material involving one or more genes or certain chromosomes.
• someone in your family has a health condition that is caused by changes in the genetic material involving one or more genes or certain chromosomes.
• some of your close relatives have had a particular type of cancer that could be inherited.

At Schell Genetics, we are here to assist you in this process. Please don’t hesitate to contact us.

Learn more about other RARE DISEASES or GENETIC DISORDERS