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Asymmetric Crying Facies and Associated Congenital Anomalies: The Contribution of 22q11 Microdeletions

✍ Scribed by Innes, A. M.

Book ID
127014923
Publisher
SAGE Publications
Year
2001
Tongue
English
Weight
143 KB
Volume
16
Category
Article
ISSN
0883-0738

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Congenital anomalies and rhabdoid tumor
Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor
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## Abstract The most common microdeletion in humans involves the 22q11 region. Congenital anomalies associated with 22q11 loss include cardiac and facial defects. Less frequent is the co‐presentation of malignant rhabdoid tumors that are highly aggressive childhood malignancies typically found in r