Hoxa facial deformities ear deformities

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Use the link below to share a full-text version of this article with your friends and colleagues. Learn more. We report here a patient with 46,XY,del 7 p Hence, the patient's phenotype may define a new contiguous gene syndrome on 7p. We describe here a patient with an interstitial deletion of chromosome 7p, 46,XY,del 7 p
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HOXA genes cluster: clinical implications of the smallest deletion

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HOXA genes cluster: clinical implications of the smallest deletion

HOXA genes cluster plays a fundamental role in embryologic development. Deletion of the entire cluster is known to cause a clinically recognizable syndrome with mild developmental delay, characteristic facies, small feet with unusually short and big halluces, abnormal thumbs, and urogenital malformations. The clinical manifestations may vary with different ranges of deletions of HOXA cluster and flanking regions. We report a girl with the smallest deletion reported to date involving the entire HOXA cluster at 7p The patient was the third child born to a healthy and non-consanguineous Italian couple.
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Genetic Advances in the Understanding of Microtia

Microtia is a genetic condition affecting the external ears and presents clinically along a wide spectrum: minimally affected ears are small with minor shape abnormalities; extremely affected ears lack all identifiable structures, with the most extreme being absence of the entire external ear. Multiple genetic causes have been linked to microtia in both animal models and humans, which are improving our understanding of the condition and may lead to the identification of a unified cause for the condition. Microtia is also a prominent feature of several genetic syndromes, the study of which has provided further insight into the possible causes and genetic mechanisms of the condition.
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