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Review
. 1998 Jan;35(1):75-7.
doi: 10.1136/jmg.35.1.75.

Partial trisomy 1(q42-->qter): a new case with a mild phenotype

D Concolino  1 , R Cinti, L Ferraro, M T Moricca, P Strisciuglio
Affiliations
Review

Partial trisomy 1(q42-->qter): a new case with a mild phenotype

D Concolino et al. J Med Genet. 1998 Jan.

Abstract

We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.

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