De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).
AUTOR(ES)
Mu, Y
RESUMO
A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049208Documentos Relacionados
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