## Abstract We report on a patient with a submicroscopic deletion of 12q13 detected by arrayβCGH and confirmed by FISH. He was haploinsufficient for the __HOXC__ gene cluster and some other neighboring genes. __HOX__ genes have an important role in the initial formation of the body. The patient sho
β¦ LIBER β¦
Developmental skeletal anomalies
β Scribed by Jose A. Morcuende; Stuart L. Weinstein
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 122 KB
- Volume
- 69
- Category
- Article
- ISSN
- 1542-975X
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A patient with the "13q-" syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the mul