Tandem duplication of proximal 5q
Rojas-Martinez, A.; Garcia-Cruz, D.; Medina, C.; Moller, M.; Restrepo, C.M.; Rivera, H.
Annales de Genetique 33(4): 228-230
1990
ISSN/ISBN: 0003-3995 PMID: 1710431 Document Number: 362087
A 3.5-year-old boy with a de novo tandem duplication 5q11.1----5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11----q13.
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