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Familial microduplication of 17q23.1-q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females

✍ Scribed by Peterson, Jess F.; Ghaloul-Gonzalez, Lina; Madan-Khetarpal, Suneeta; Hartman, Jessica; Surti, Urvashi; Rajkovic, Aleksandar; Yatsenko, Svetlana A.

Book ID
121648108
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
395 KB
Volume
164
Category
Article
ISSN
1552-4825

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Microdeletion of 17q22q23.2 encompassing
Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension
✍ Manjunath Nimmakayalu; Heather Major; Val Sheffield; Donald H. Solomon; Richard πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 288 KB

## Abstract Microdeletions of the long arm of chromosome 17 are being reported with increasing frequency. Deletions of 17q22q23.2 may represent a genetically recognizable phenotype although its spectrum of genomic abnormalities, clinical manifestations, and critical regions are not fully delineated