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Duplication of the terminal band of the long arm of chromosome 7: a new case.

Authors :
Boccone L
Gasperini D
Pilloni G
Cao A
Nucaro A
Source :
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2004; Vol. 15 (1), pp. 87-90.
Publication Year :
2004

Abstract

We report on a new case of de novo duplication of the terminal band of chromosome 7, 46, XX dup(7) (q36 > qter), defined by fluorescence in situ hybridization (FISH), which cause a recognizable phenotype consisting of macrocephaly, prominent frontal bossing, slight developmental delay.

Details

Language :
English
ISSN :
1015-8146
Volume :
15
Issue :
1
Database :
MEDLINE
Journal :
Genetic counseling (Geneva, Switzerland)
Publication Type :
Academic Journal
Accession number :
15083705