What genetic condition is characterized by X-linked ichthyosis?

Study for the Maternal-Fetal Medicine (MFM) Qualifying Exam. Explore comprehensive flashcards and detailed multiple-choice questions, each with hints and explanations to prepare effectively. Achieve success with confidence!

X-linked ichthyosis is primarily characterized as an X-linked recessive disorder. This means that the condition is caused by a mutation in a gene on the X chromosome, specifically the STS gene, which is involved in the metabolism of sterols and is crucial for skin barrier function.

In X-linked recessive inheritance, males, who have only one X chromosome, are more likely to express the condition since they lack a second X chromosome that could carry a normal copy of the gene. Females can be carriers if they have one affected X chromosome, and they typically do not show symptoms unless they are homozygous for the recessive mutation, which is rare.

Understanding this inheritance pattern is crucial in maternal-fetal medicine for assessing risk in familial cases and providing appropriate genetic counseling. In summary, the classification of X-linked ichthyosis as an X-linked recessive disorder is significant because it informs the management and treatment options available for affected individuals and their families.

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