A 38 year old man, Bhandari, and his 34 year old wife, Shelly, came to the NS OP with their 3 month old son whom they got after over 2 years of courtship. Obviously, their marriage was a late marriage. They were really apprehensive and filled with doubt about their son a rather floppy baby with small nose, almond eyes with epicanthal folds and small mouth with protruding tongue. During pregnancy, various tests and ultrasound scanning had revealed few abnormalities, but the couple were reluctant to terminate the baby as they were already worried about the late conceiving plus the trauma of terminating the pregnancy. They decided to continue the pregnancy. The child was diagnosed with Down's syndrome leaving the hapless parents with a bunch of questions and apprehension about his future. How did it happen to us? Is it due to any environmental factors or any genetic defect in any of the parents? What will be the future of this child? Will the subsequent sibling be the same?
Down syndrome (trisomy of chromosome 21) is the most common chromosome abnormality in humans occurring in about one per 1000 babies born each year. It is typically associated with physical growth delay, characteristic facial and physical features, mild to moderate intellectual disability and poor immune function. It increases the risk of a number of other health problems including congenital heart disease, leukemia, thyroid disorders, and mental illness.
Risk factors for Down's syndrome include:
Advancing maternal age is the main risk. A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with Down syndrome is about 1 in 350. By age 40, the risk is nearly 1 in 100, and by age 45, the risk is around 1 in 30.
Having had one child with Down syndrome the risk for next child with Down's syndrome is about 1 in 100.Mothers who have Down syndrome themselves are 50% more likely to give birth to a child with this condition.
Being carriers of the genetic translocation for Down syndrome, parents can pass down a chromosomal abnormality called balanced translocation, which contributes to Translocation Down syndrome. In this instance, the parent does not have signs of Down syndrome, but has genetic material "balanced" between chromosome 21 and another chromosome, posing an increased risk for the child if that material attaches to the other chromosome when the cell divides.
Folate metabolism is abnormal in mothers of children with Down syndrome and that this may be explained, in part, by a mutation in the MTHFR gene.
Physical features include a short stature, small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, a protruding tongue due to a small mouth and large tongue, a flat and wide face, a short neck, excessive joint flexibility, extra space between big toe and second toe, abnormal patterns on the fingertips and short fingers.
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