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New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

✍ Scribed by Caroline Schluth; Roselyne Gesny; Guntram Borck; Richard Redon; Véronique Abadie; Pascale Kleinfinger; Arnold Munnich; Stanislas Lyonnet; Laurence Colleaux


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
133 KB
Volume
146A
Category
Article
ISSN
1552-4825

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Interstitial deletion of chromosome 4, d
✍ Fujimoto, Atsuko; Reddy, Kavita S.; Spinks, Randy 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 1 views

A 17-year-old boy who was diagnosed with ''Waardenburg syndrome'' showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a chromosome 8. The rearrangement was confirmed to be