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Hum Genet. 1979 Feb 15;46(3):341-4.

Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype.

Abstract

Partial 18q12 trisomy, due to intrachromosomal duplication, was found in a severely mentally retarded boy. The finding of nonspecific dysmorphism in this patient demonstrates that trisomy of band 18q12 is accompanied by neither a full nor an incomplete 18 trisomy phenotype, indicating that this phenotype may be due solely to trisomy of the 18q11 band.

PMID:
437778
[Indexed for MEDLINE]
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