1. Single gene disorder pedigree proband: affected individual that initially comes to light kindred: relatives outside of the immediate nuclear family siblings: brothers and sisters of the proband

2. Single gene disorder

3. single gene inheritance autosomal dominant autosomal recessive X-linked dominant X-linked recessive Maternal (mitochondrial) inheritance

4. Single gene disorder autosomal dominant: appear in every generation; child of an affected parent has a 50% chance of inheriting the disease; normal members do not transmit the disease

5. Single gene disorder autosomal dominant: males and females are equally likely to have the disease and to transmit the disease; male-to-male transmission can occur; males can have unaffected daughters

6. Single gene disorder autosomal resseive: parents of an affected individual may not express the disease; the chance of an affected child's brothers or sisters having the disease are 1 in 4; males and females are equally likely to be affected

7. Single gene disorder autosomal resseive: a child is at increased risk of a recessive disease if the parents are related

8. Single gene disorder X-linked recessive: incidence is much higher in males than females; males do not transmit it to their sons -- they do transmit it to their daughters; sons of these daughters then have a 50% chance

9. Single gene disorder X-linked dominant: affected males will not have affected sons; all of their daughters will be affected; sons or daughters of affected females will have a 50% chance of getting the disease

10. Single gene disorder Autosomal dominant familial hypercholesterolemia (FHC) Huntington's disease acondroplasia (short-limbed dwarfism) polycystic kidney disease Marfan syndrome neurofibromatosis tuberous sclerosis

11. Single gene disorder Autosomal recessive cystic fibrosis (CF) phenylketonuria (PKU ) alpha-1-antitrypsin (AAT ) deficiency sickle cell anemia ADA deficiency Tay-Sachs disease hemochromatosis

12. Single gene disorder X-linked recessive Duchenne muscular dystrophy Hemophilia A X-linked dominant: only a few, very rare, disorders are classified as X-linked dominant hypophosphatemic rickets (vitamin D - resistant rickets)

13. Multifactorial disorder Many of the most common diseases which affect humans undoubtedly involve interactions of numerous genes, including coronary heart disease, hypertension, stroke, and various kinds of cancer.

14. Multifactorial disorder Alzheimers disease heart disease some cancers neural tube defects schizophrenia insulin-dependent diabetes mellitus intelligence

15. Mitochondrial DNA-linked disorder mitochondria contain their own private DNA; mitochondria come only from the egg; more than 20 hereditary disorders maternal inheritance; fathers do not pass on the disease

16. Mitochondrial DNA-linked disorder appear at any age with a wide variety of non-specific symptoms and signs (metabolic disturbances, developmental delay, blindness, hearing loss, heart rhythm problems, short stature, and gastrointestinal problems)

17. Chromosome disorder defect is due not to a single gene, but to an excess or deficiency of the genes contained in a whole chromosome or chromosome segment Down syndrome is the most common chromosomal disorder (1 out of 800) Klinefelter syndrome (1 out of 1,000 males) Turner syndrome (1 out of 5,000 females)

18. Chromosomal disorders aneuploidy in oocytes (18 - 19%) and sperm (3 - 4%) about 1 in 13 conceptions results in a chromosomally defective conceptus over 50% of spontaneous abortions during first-trimester are associated with chromosomal anomalies

19. Chromosomal disorders chromosomal defects occur in 0.65% of all births; an additional 0.2% of babies were born with balanced structural chromosome rearrangements 5.6 - 11.5% of stillbirths and neonatal deaths have chromosomal defects

20. Genetic disorders 2 - 3% of children are born with a congenital birth defect by age 18, approximately 8% are discovered to have one or more anomalies

21. Frequency of genetic disease by age (per 1000 live births) typefrequency by age 25lifetime frequency chromosome disorders1.84 single-gene disorders3.620 multifactorial disease46.4646 somatic cell (cancer) disease -240 total52910

22. Chromosomal disorder 0.65 - 0.84% of all births advanced maternal age 75 - 80% of babies with chromosomal defects are delivered by women younger than 35 years of age

23. Chromosomal disorder > 50% of first-trimester spontaneous abortions > 5% of stillborn infants

24. Chromosomal disorder Aneuploidy (trisomy, monosomy, polyploidy) Deletion Inversion Translocation Insertion

25. Robertsonian translocation offspring parent

26. Chromosomal disorder IncidencePer 1000 birthsPer birth Sex chromosomes Male1.151/870 Female0.751/1333 Autosomal trisomy1.421/700 Structural abnormality Unbalanced0.611/1600 Balanced5.221/200 Triploidy0.021/50,000 Total9.171/109

27. Type of AbnormalityIncidence Numerical aberrations Sex chromosomes 47,XYY1/1,000 MB 47,XXY1/1,000 MB Other (males)1/1,350 MB 47,X1/10,000 FB 47,XXX1/1,000 FB Other (females)1/2,700 FB Autosomes Trisomies 13 – 15 (D group) 1/20,000 LB 16 – 18 (E group) 1/8,000 LB 21 – 22 (G group) 1/800 LB Other1/50,000 LB

28. Type of AbnormalityIncidence Structural aberrations Balanced Robertsonian t(Dq;Dq)1/1,500 LB t(Dq;Gq)1/5,000 LB Reciprocal translocations1/7,000 LB Unbalanced Robertsonian1/14,000 LB Reciprocal translocations and insertions1/8,000 LB Inversions1/50,000 LB Deletions1/10,000 LB Supernumeraries1/5,000 LB Other1/8,000 LB Total1/160 LB