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Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region

✍ Scribed by F. F. B. Elder; J. W. Ferguson; L. H. Lockhart


Publisher
Springer
Year
1984
Tongue
English
Weight
894 KB
Volume
67
Category
Article
ISSN
0340-6717

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✦ Synopsis


An interstitial deletion of the long arm of chromosome 16 has been identified in identical twins. These patients are strikingly similar phenotypically to previously reported cases of deletion 16q syndrome but differ chromosomally in that their deletion involves the 16q12.2-q13 rather than the 16q21. We propose that the 16q12.2-q13 is the "critical region" in the production of this rare but distinctive phenotype.