Inverted duplication with terminal deletion of 5p and no cat-like cry
β Scribed by Jia-Chi Wang; Bradley P. Coe; Brenda Lomax; Patrick M. MacLeod; Malcolm I. Parslow; Jacqueline E. Schein; Wan L. Lam; Patrice Eydoux
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 244 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dysmorphism. She demonstrated common features of both 14q31βqter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arte
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