Estimate of prevalence of proximal 15q duplication syndrome
β Scribed by Moeschler, John B. ;Mohandas, T.K. ;Hawk, Arnold B. ;Noll, Walter W.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 101 KB
- Volume
- 111
- Category
- Article
- ISSN
- 0148-7299
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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
## Abstract We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ