A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46,XY, 22q + karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22qll.l + q11.2. Although no anal abnormality was identified, his manifestations are
Inverted duplication of 22pter → q11.21 in cat-eye syndrome
✍ Scribed by Hoo, Joe J. ;Robertson, Anne ;Fowlow, S. Bea ;Bowen, Peter ;Lin, C. C. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 229 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0148-7299
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