作者: Fredrik Mertens , Berth. Johansson , Marianne Forslund , Marcel Olsson , Ulf Kristoffersson
DOI: 10.1111/J.1399-0004.1987.TB03322.X
关键词:
摘要: An inverted tandem duplication of 1q11-q22 was found in a male infant with severely retarded psychomotor development, growth retardation, and multiple congenital malformations. Trisomy for this segment chromosome 1 has not been previously reported.