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Terminal deletion 4q in a severely retarded boy

โœ Scribed by de Michelena, Maria I. ;Campos, Patricia J.


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
232 KB
Volume
33
Category
Article
ISSN
0148-7299

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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