Question

Kate is born with features that do not look quite normal. Her eyes are wide-set and slightly slanted. Her nose is short and flat, and she keeps her mouth slightly open. There is a straight crease across her palm, and her fifth digit is unusually short. The doctor tells her parents she has an inherited disorder. If you were the doctor what would you diagnosis Kate with? Discuss the etiology of Kate’s disorder? What is the biggest risk factor for this disorder? How can or will this disorder affect Kate? What test could have been completed to diagnosis this disorder before Kate’s birth?

Answer 1

Answer) the diagnosis for Kate's disorder is Down's syndrome.

Etiology of downs syndrome.

Down's syndrome occurs due to trisomy to chromosome 21. An extra chromosomal copy of chromosome number 21. Normally all chromosomes are paired, addition of an extra chromosome to a pair is trisomy. Occurs due to an error during cell division.

Another cause is translocation of a part of chromosome 21 which breaks off and attactches to another chromosomal pair.

Yet another cause is non disjunction of chromosome 21 after division.

Biggest risk factor for downs syndrome is advanced maternal age especially after 35 years of age because an older egg has a higher chance of having an error during cell division.

This disorder causes a reduced IQ or intellectual impairment, congenital heart diseases, reduced cognitive development, delayed sexual maturation etc. Hearing problems, speech impairment, delayed milestones during growth period.

Diagnostic test to identify the disorder in pregnancy is chorionic villus sampling. Performed during the first trimester of pregnancy. It detects the chromosomal abnormality in fetus.

Another test is amniocentesis.