Chromosomal syndromes

1. What are signs associated with Down Syndrome (Trisomy 21)?
2. What are signs associated with Turner Syndrome (45X)?
3. What are signs associated with Klinefelter Syndrome (47XXY)?
4. What infectious agents that cause interuterine malformations?
5. What drugs and maternal diseases are teratogenic?

Answers:
1. Mongoloid slant of eyes, Brushfield spots on iris, protruding tongue, low set auricles, excess nuchal skin, Simian lines, incurving of 5th fingers, increased distance between first toes, mottling of skin, hypotonia, heart disease (VSD).
2. Triangular face, abnormal ears, webbed neck, broad chest, wide niples, short stature, cubitus valgus, primary amenorrhea, CHD (coarctation of aorta), normal IQ, infertility.
3. Tall, small testicles, gynecomastia, eunuchoid build, mild mental retardation, infertility.
4. Rubella, CMV, toxoplasma, herpes, varicella.
5. Alcohol, cocaine, anticonvulsants, Vit A, DM, phenylketonuria.