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De novo 21q interstitial deletion in a retarded boy with ulno-fibular dysostosis

✍ Scribed by Reynolds, James F. ;Wyandt, Herman E. ;Kelly, Thaddeus E. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
408 KB
Volume
20
Category
Article
ISSN
0148-7299

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✍ Fujimoto, Atsuko; Reddy, Kavita S.; Spinks, Randy πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 22 KB πŸ‘ 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