1. Sex Linked Inheritance A human female, has 23 pair of chromosomes A human male, has 22 similar pairs and one pair consisting of two chromosomes that are dissimilar in size and structure. The 23 rd pair in both the sexes is called sex chromosomes the female, XX. the male, XY

2. X-linked diseases X-linked diseases are those for which the gene is present on the X chromosome. X-linked genes are never passed from father to son. The Y chromosome is the only sex chromosome that passes from father to son. Males are never carriers – if they have a mutated gene on the X chromosome, it will be expressed.

3. X-linked dominant Hereditary pattern in which a dominant gene on the X chromosome causes a characteristic to be manifested in the offspring. X-linked dominant diseases are those that are expressed in females when only a single copy of the mutated gene is present. Very few X-linked dominant diseases have been identified (e.g. hypophosphatemic rickets, Alport syndrome, diabetes insipidus) –hypophosphatemic rickets or vitamin D resistant rickets >>>low serum phosphorus, skeletal abnormalities –Alport syndrome, which involves progressive hearing loss and progressive kidney problems.

4. Characteristics of X-linked dominant diseases include: Never passed from father to son. Affected males produce only affected females. An affected male only has one X chromosome to pass on to his daughters Affected females produce 50% normal and 50% affected offspring.. >>>> heterozygous Males are usually more severely affected than females. Some X-linked dominant traits may even be lethal to males. Females are more likely to be affected. Since females have 2 X chromosomes, they have 2 “chances” to inherit the mutated allele.

5. The pattern for the pedigree of X- linked dominant inheritance

6. Pattern for inheritance Mating A Mating B

7. Pattern for inheritance Mating A Mating B

8. X-linked recessive hereditary pattern in which a recessive gene on the X chromosome results in the manifestation of characteristics in male offspring and a carrier state in female offspring X-linked recessive diseases are those in which a female must have two copies of the mutant allele in order for the mutant phenotype to develop. Many X-linked recessive disorders are well- known, including color blindness, hemophilia, and Duchenne muscular dystrophy.

9. The pattern for the pedigree of X- linked recessive inheritance

10. www.tylermedicalclinic.com/ pgd-presentation18...

11. Pattern of x linked recessive inheritance staff.um.edu.mt/ acus1/02Monogenic.htm

12. Hemophilia The blood fails to clot normally Lacking a blood clotting factor VIII(antihemophilic globulin, AHG),IX bleeding from even minor cuts in 1,500 newborn males. Most (75%) have hemophilia A, a lack of clotting factor VIII. Hemophilia B- "Christmas Disease" is a defect in clotting factor IX. Transfusions of fresh whole blood or plasma or factor concentrates control bleeding

13. Hemophilia A and B. Coagulation system www.emedicine.com/.../ 14801480ped0962-01.jpg

14. Inheritance of hemophilia www.hemophilia.ca/ en/images/figure5.gif

15. A Pedigree of Hemophilia in the Royal Families of Europe

16. Typical features of X-linked recessive inheritance Never passed from father to son. Males are much more likely to be affected because they only need one copy of the mutant allele to express the phenotype. Affected males get the disease from their mothers and all of their daughters are obligate carriers. Sons of heterozygous females have a 50% chance of receiving the mutant allele. These disorders are typically passed from an affected grandfather to 50% of his grandsons.