Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter
✍ Scribed by Nicolas Gruchy; Marie-Line Jacquemont; Stanislas Lyonnet; Philippe Labrune; Imen El Kamel; Jean-Pierre Siffroi; Marie-France Portnoï
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 248 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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Please note that Figure 2A needed correction. [A] FISH using subtelomere probes [TelVysion 2p Spectrum green (VIJyRM2052) and TelVysion 2q Spectrum orange (VIJyRM2123)] from Abbott Molecular. The legend is correct; however, the chromosome on the left should have a red signal designated with q and n
We report on a 4-month-old boy with a de novo interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and clinical findings typical of proximal 3p deletion together with coloboma of iris, heart defect, choanal atresia, retardation of growth and development, genital hypoplas