TY - JOUR
T1 - De novo direct tandem duplication of the proximal long arm of chromosome 2
T2 - 46,XX,dir dup(2)(q11·2q14·2)
AU - Mu, Y.
AU - Van Dyke, D. L.
AU - Weiss, L.
AU - Olgac, S.
PY - 1984
Y1 - 1984
N2 - A child is described with a de novo direct duplication of the region 2q11·2→2q14·2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.
AB - A child is described with a de novo direct duplication of the region 2q11·2→2q14·2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.
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M3 - Article
C2 - 6694186
AN - SCOPUS:0021345332
SN - 0022-2593
VL - 21
SP - 57
EP - 58
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 1
ER -