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X-Linked Recessive Inheritance Overview

X-linked recessive inheritance usually affects males who inherit an X-linked mutation from their mother. Females can also be affected if they inherit mutations in the same gene from both parents, though they are usually carriers who may have mild symptoms. A male child has a 50% risk of inheriting the disorder from a carrier mother, while a female child has a 50% risk of being a carrier. Affected males pass the mutation to all daughters, who are carriers, but never to sons. The family history often shows the disease in maternal uncles. Small families or new mutations can make the pattern difficult to discern.

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172 views1 page

X-Linked Recessive Inheritance Overview

X-linked recessive inheritance usually affects males who inherit an X-linked mutation from their mother. Females can also be affected if they inherit mutations in the same gene from both parents, though they are usually carriers who may have mild symptoms. A male child has a 50% risk of inheriting the disorder from a carrier mother, while a female child has a 50% risk of being a carrier. Affected males pass the mutation to all daughters, who are carriers, but never to sons. The family history often shows the disease in maternal uncles. Small families or new mutations can make the pattern difficult to discern.

Uploaded by

joryjohary
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© Attribution Non-Commercial (BY-NC)
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd

X-Linked Recessive Inheritance

X-Linked Recessive Inheritance


X-linked recessive disease usually occurs in males who have inherited a recessive X-linked mutation from their mother. Rarely, the disease may be seen in females who have inherited mutations in the same gene X-linked from both parents. More typically, the mother is a carrier and is unaffected, although it is not uncommon for female carriers of X-linked disorders to have mild clinical manifestations related to the disorder for example, carriers of hemophilia may have mild bleeding problems.

Pedigree Characteristics of X-Linked Recessive Inheritance

A male child of a woman who is a carrier has a 50% risk of inheriting the disorder. A female child of a woman who is a carrier has a 50% risk of inheriting the gene mutation and thus being a carrier herself. An affected male - if able to reproduce - will pass on the gene mutation to all daughters, who are therefore obligate carriers. The affected male never passes the disease on to a son. The typical family history for an X-linked recessive condition is of disease in maternal uncles. A woman who has both a brother and a son affected with an X-linked disease is also an obligate carrier.

Pitfalls in Recognizing X-Linked Recessive Inheritance and Providing Genetic Counseling

Small families. Small family size and few male children may make the pattern of an X-linked recessive disorder difficult to discern. New mutation. An affected male may be the first person in the family with the condition, due to a mutation arising for the first time in sperm, egg or embryo. Germline mosaicism. A new mutation may arise in testis or ovary, resulting in a parent who can pass on the condition or the carrier state to children, without being either affected (in the case of a male parent) or a carrier (in the case of a female parent).

[Link] [3/5/2009 [Link] AM]

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