Genetics of Cloacal Exstrophy

Cloacal Exstrophy may be a spontaneous error of development that is due to either a somatic mutation or a complex gene-environment interaction [17]. However, within a group of 232 families, 4 multiplex families were identified, suggesting some genetic component in the causation of these anomalies. A single case report of cloacal exstrophy due to an unbalanced translocation between the long arm of chromosome 9 and the long arm of the Y chromosome lends further support to this hypothesis [18]. In a review of 22 cases of cloacal exstrophy, Husmann reported 1 female with trisomy 21 and 1 mosaic (45XO/46XX) [19].

In a series of six fetuses with cloacal exstrophy examined at the Fetal Care Research Foundation, one genetic anomaly was identified (Table. 14.1).

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Essentials of Human Physiology

Essentials of Human Physiology

This ebook provides an introductory explanation of the workings of the human body, with an effort to draw connections between the body systems and explain their interdependencies. A framework for the book is homeostasis and how the body maintains balance within each system. This is intended as a first introduction to physiology for a college-level course.

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