Distal trisomy 14q. I, Clinical and cytogenetical studies

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 cas...

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Bibliographic Details
Published in:Human genetics 1990-10, Vol.85 (6), p.612-616
Main Authors: GILGENKRANTZ, S, VIGNERON, J, PETER, M.-O, DUFIER, J. L, TEBOUL, M, CHERY, M, KEYEUX, G, LEFRANC, M.-P
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome aberrations
Chromosome Banding
Chromosomes, Human, Pair 14
Facial Bones - abnormalities
Female
Heart Defects, Congenital - genetics
Humans
Intellectual Disability - genetics
Medical genetics
Medical sciences
Trisomy
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00193584