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Q1: Explain any four traits and genetic abnormalities in child development?
(2.5*4=10 Marks)
1. Cystic Fibrosis
Cystic Fibrosis is one of the most widespread inherited genetic disorders. It prominently affects
Caucasians who are Ashkenazi Jews. It occurs only when both parents are carriers, which gives
their children a 1 in 4 risk of contracting the disease. Cystic Fibrosis results when a lack of a certain
protein is present and the balance of chloride in the body isn’t restricted. Symptoms include difficulty
breathing, recurrent lung infections, digestive, and reproductive issues
2. Huntington’s Disease
Huntington’s Disease (HD) causes the degeneration of the nerve cells in the brain and central
nervous system. This hereditary condition is autosomal dominant disorder, meaning that children
have a 50-percent chance of developing it and passing it along to their own children if one of their
own parents has it. Treatment aims to limit the course of the disease. HD typically shows itself when
the individual is between 30 and 40-years old—however, rare forms begin in childhood. Symptoms
of HD include uncontrolled movement (chorea), difficulty swallowing, behavioral changes, difficulty
balancing and walking, memory, speech, and cognitive loss.
3. Down Syndrome
Down Syndrome, a common chromosomal abnormality that effects approximately 1 in 1000
newborns (particularly in older expectant mothers), results when an extra copy of genes occurs on
chromosome 21. Although Downs can be detected by pre-natal testing, babies affected typically
show the following features at birth—decreased muscle tone in the face, developmental delays, and
heart and digestive system defects.