Phenotypic variation in two patients with a ring chromosome 22
โ Scribed by S. J. FUNDERBURK; R. S. SPARKES; I. KLISAK
- Book ID
- 119838864
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 626 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0009-9163
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We report on a patient with multiple congenital anomalies and ring chromosome 22 who died at age 16 years of bronchopneumonia. Autopsy documented multiple psammomatous meningiomas of the spinal dura and tentorium. n m o r tissue for cytogenetic analysis was not available. Although abnormalities of c
## To the Editor: The Opitz or BBBG syndrome is an autosomal dominant disorder characterized by facial anomalies and multiple congenital abnormalities. Recent evidence would suggest that the Opitz and BBB syndromes form a spectrum of the same condition Verloes et al., 19891 and it has been sugges