Down Syndrome (Also Known As "Trisomy 21")

This is the most common genetic abnormality. It develops when the age of the mother is older. As women get their babies often beyond their 30-th birthday, this feared syndrome has become more common.

These individuals have a characteristic facial appearance with a broad nasal bridge and a protruding tongue. Small, low set ears are another characteristic. These individuals often do not live as long as genetically normal individuals as they have a high precentage of heart abnormalities and a weak immune system making them more prone to frequent respiratory infections and leukemia.

Perhaps the most important defect is that they suffer from a more or less severe mental retardation, which necessitates them to be cared for for the rest of their lives.

Here are some statistics (modified from Ref. 18, p.221), which show how many live births with genetic abnormalities are born to pregnant women in different age groups. There is clearly a trend toward higher genetic abnormalities in the age group above 30.

*Effect of the age of mother on the risk for chromosomal abnormalities in the fetus*
*Maternal age (years):*	*Down syndrome:*	*Any chromosomal abnormality:*
20	1 in 1670	1 in 530
25	1 in 1250	1 in 480
30	1 in 950	1 in 380
35	1 in 390	1 in 200
40	1 in 110	1 in 70

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Disclaimer:

This outline is only a teaching aid to patients and should stimulate you to ask the right questions when seeing your doctor. However, the responsibility of treatment stays in the hands of your doctor and you.

References:

1. The Merck Manual, 7th edition, by M. H. Beers et al., Whitehouse Station, N.J., 1999. Chapter 235.

2. B. Sears: "Zone perfect meals in minutes". Regan Books, Harper Collins, 1997.

3. Ryan: Kistner's Gynecology & Women's Health, 7th ed.,1999 Mosby, Inc.

4. The Merck Manual, 7th edition, by M. H. Beers et al., Whitehouse Station, N.J., 1999. Chapter 245.

5. AB Diekman et al. Am J Reprod Immunol 2000 Mar; 43(3): 134-143.

6. V Damianova et al. Akush Ginekol (Sofia) 1999; 38(2): 31-33.

7. Townsend: Sabiston Textbook of Surgery,16th ed.,2001, W. B. Saunders Company

8. Cotran: Robbins Pathologic Basis of Disease, 6th ed., 1999 W. B. Saunders Company

9. Rakel: Conn's Current Therapy 2001, 53rd ed., W. B. Saunders Co.

10. Ruddy: Kelley's Textbook of Rheumatology, 6th ed.,2001 W. B. Saunders Company

11. EC Janowsky et al. N Engl J Med Mar-2000; 342(11): 781-790.

12. Wilson: Williams Textbook of Endocrinology, 9th ed.,1998 W. B. Saunders Company

13. KS Pena et al. Am Fam Physician 2001; 63(9): 1763-1770.

14. LM Apantaku Am Fam Physician Aug 2000; 62(3): 596-602.

15. Noble: Textbook of Primary Care Medicine, 3rd ed., 2001 Mosby, Inc.

16. Goroll: Primary Care Medicine, 4th ed.,2000 Lippincott Williams & Wilkins

17. St. Paul's Hosp. Contin. Educ. Conf. Nov. 2001,Vancouver/BC

18. Gabbe: Obstetrics - Normal and Problem Pregnancies, 3rd ed., 1996 Churchill Livingstone, Inc.

19. The Merck Manual, 7th edition, by M. H. Beers et al., Whitehouse Station, N.J., 1999. Chapter 251.

20. The Merck Manual, 7th edition, by M. H. Beers et al., Whitehouse Station, N.J., 1999. Chapter 250.

21. Ignaz P Semmelweiss: "Die Aetiologie, der Begriff und die Prophylaxis des Kindbettfiebers" ("Etiology, the Understanding and Prophylaxis of Childbed Fever"). Vienna (Austria), 1861.

22. Rosen: Emergency Medicine: Concepts and Clinical Practice, 4th ed., 1998 Mosby-Year Book, Inc.

23. Mandell: Principles and Practice of Infectious Diseases, 5th ed., 2000 Churchill Livingstone, Inc.

24. Horner NK et al. J Am Diet Assoc Nov-2000; 100(11): 1368-1380.

Last Modified: Feb. 4, 2012