In the early stages of development of a fetus in the womb of the mother, several processes undertake. Most of these are for synthesis of the genetic makeup of the fetus. However, there are factors that may contribute in the alteration of the synthesis of genes and may lead to chromosomal aberration. In the long run, the fetus may suffer from a congenital defect or illness due to these alterations.
Alterations in the genetic code create an anomaly in the development of the zygote especially in the first month of his life. It may affect only a small portion of the DNA (Deoxyribonucleic Acid) which is called point mutation or a group of parts which is termed gross mutation. Chromosomal abnormalities are described as a condition where there is an abnormal number of chromosomes in the human body that creates physical and structural deformities that might be fatal to the fetus after birth.
Down syndrome is an anomaly which entails an extra copy of chromosome 21 that is why it is termed Trisomy 21. The normal number of chromosomes is 23 pairs. In this condition, it can be detected immediately after birth even without newborn screening due to its distinct characteristics that can be seen in the face and hands of the baby. It is also associated with delayed cognitive ability and physical growth.
In the United States, it affects between 1 in 600 and 1 in 1000 live births. The Centers for Disease Control and Prevention reports that the condition is still the most common chromosomal disease worldwide. In fact, every year, around 6,000 babies are born with Down syndrome.
Subsequently, according to Science Daily, children with Down syndrome are at risk for various complications and diseases. One of the deadliest, leukemia, can affect these children due to the abnormality in their bone marrow which is responsible for producing the blood cells in the body.
A group of geneticists from the Faculty of Medicine at the University of Geneva studied the genetic characteristics of Down syndrome and they found out that there is a link between the Acute Lymphoblastic Leukemia and Down syndrome.
Furthermore, another group of scientists uncovered that people with DS have an increased risk of many health problems but ALL is the most fatal as they have 20 times increased risk of having it than the general population.