Скачать или смотреть X Linked Dominant Inheritance - Everything You Need To Know - Dr. Nabil Ebraheim

Dr. Ebraheim’s educational animated video explains the X-Linked dominant inheritance and provides you with examples and simple pedigree to help comprehend all you need to know about this inheritance type.

X-linked dominance will not skip a generation.
Examples in orthopedics:
1-Hypophosphatemic rickets( vitamin D resistant rickets)
2-Leri-weill Dyschondrosteosis (LWD): is a dominantly inherited skeletal dysplasia, characterized by short stature, mesomelia, and madelung wrist deformity.
Hypophosphatemic rickets( vitamin D resistant rickets)
X-linked hypophosphatemic rickets with inability of the renal tubules to absorb phosphates (phosphates levels are down linked to PHEX gene- Phosphate Regulating Endopeptidase Homolog, X-linked). It is the most common cause of rickets in the United States of America.
Look at these three factors:
1-Child is sort in stature
2-Bowing of the lower limbs
3-Low serum phosphate levels
Since body is trying to compensate, so:
1-Alkaline phosphatase (ALP) levels will be high.
2-Calcium levels will be normal.
3-The parathyroid hormone will be normal.
Treatment is usually high doses of phosphate replacement and high doses of vitamin D to facilitate the phosphate absorption.
Leri-weill Dyschondrosteosis (LWD):
A rare genetic disorder caused by mutation of the SHOX gene.
Characterized by shortened stature caused by homeobox-containing gene and bilateral Madelung deformity of the forearm.
If the mother is affected and the father is not affected, the condition will affect 50 % of the children and it will be equal in children males and females.
If the father has the disease, none of the boys will get the disease but all the girls will get the disease. It will affect 50% of the children, but all the girls will be affected.
The affected individual has an affected parent due to the dominant gene. All affected males must have an affected mother.
All affected fathers will have affected daughters and no affected sons.
Look at the males! Look at the sons and look at the fathers!
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