Tandem duplication (1) (q11----q22) in a male infant with multiple congenital malformations.

作者: Fredrik Mertens , Berth. Johansson , Marianne Forslund , Marcel Olsson , Ulf Kristoffersson

DOI: 10.1111/J.1399-0004.1987.TB03322.X

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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.

参考文章(2)
K. Sperling, Frequency and Origin of Chromosome Abnormalities in Man Springer, Berlin, Heidelberg. pp. 128- 146 ,(1984) , 10.1007/978-3-642-69530-8_6
Walther Vogel, Elke Back, Winfried Imm, Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations. Clinical Genetics. ,vol. 13, pp. 159- 163 ,(2008) , 10.1111/J.1399-0004.1978.TB04244.X