Question

A 10-year-old patient is found to have the following clinical features: Slanting eyes with an epicanthic fold of skin in the eyelid, hypertelorism, dysplastic ears, mongoloid face, and protruding tongue.
The above-mentioned features are associated with which syndrome?
A. Downs syndrome
B. Klinefelter's syndrome
C. Turner's syndrome
D. Cri-du chat syndrome

Answer 1

Hint: The syndrome can be defined as a set of medical signs and symptoms which is correlated with one another and is associated with a particular disease or a disorder. A syndrome is closely linked to pathogenesis. And some of the syndromes can be inherited. A syndrome cannot be specific to only one type of disease. For example, toxic shock syndrome is caused by many toxins.

Complete answer:Downs Syndrome- A person with Down syndrome will have intellectual and developmental problems which can be mild, moderate, or severe. Some of the individuals seem to be healthy but few of them have severe complications like heart defects. People with this syndrome have a flattened face, small head, short neck mongoloid face, dysplastic ears, etc.
Klinefelter’s syndrome- It is a genetic disorder that results when a boy is born with an extra copy of the chromosome X. This syndrome will affect males, and it cannot be diagnosed until childhood. Men with this syndrome produce little or no sperm at all.
Turners syndrome- It is a condition that affects only females, it results when one of the X chromosomes is partially missing or missing. This can cause a variety of medical and developmental problems, short height, no ovaries, and heart defects.
Cri-du chat syndrome- This syndrome is also known as 5p- syndrome or cat cry syndrome. This is a rare genetic condition that is caused by the deletion of genetic material on the small arm of chromosome number five. The cause of this deletion is unknown. Symptoms are cat-like cry, no development, mental retardation, distinctive facial features, microcephaly, hypertelorism, etc.

Hence the answer is option A, Downs syndrome.

Note- Trisomy of the 21st chromosome in man will result in Down syndrome. This syndrome is characterized by warty skin, short stature, slanting eyes, protruding tongue, eyelids folded, broad hands, etc. The person has a typical mongoloid look so it is also called as mongoloid idiocy. This occurs because of the phenomenon of nondisjunction. This happens when a pair of homologous chromosomes do not separate in meiosis.