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Distal trisomy 14q.

Authors :
Gilgenkrantz, Simone
Vigneron, Jacqueline
Peter, Marie-Odile
Dufier, J.
Teboul, M.
Chery, Michèle
Keyeux, Genoveva
Lefranc, Marie-Paule
Source :
Human Genetics; 1990, Vol. 85 Issue 6, p612-616, 5p
Publication Year :
1990

Abstract

Two cases of de novo duplication of the distal part of the long arm of chromosome 14 are reported. In one case, the partial trisomy of 14q is due to translocation of a segment (14q24 to 14qter) at the end of the satellite stalk of chromosome 14. The clinical picture is very severe. In the second case, a tandem duplication in 14 (q23→q32) is present with only minor malformations and mild mental retardation. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03406717
Volume :
85
Issue :
6
Database :
Complementary Index
Journal :
Human Genetics
Publication Type :
Academic Journal
Accession number :
72590663
Full Text :
https://doi.org/10.1007/BF00193584