Partial trisomy 6p due to maternal t(1;6) translocation |
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| Authors: | Minghao Song Luyun Li |
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| Affiliation: | The State Key Laboratory of Medical Genetics, Hunan Medical University, Changsha, Hunan, P.R. China |
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| Abstract: | Partial trisomy 6p with duplications ranging from 6p21 to 6p25 is emerging as an established syndrome. A case of duplication of segment p22-p25 of the short arm of chromosome 6 as the result of a maternal t (1;6)(q44;p22.2) translocation in a mentally retarded girl with congenital anomalies is reported here. The associated phenotypic anomalies are compared with other reported cases of duplication 6p involving adjacent regions. |
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| Keywords: | congenital anomalies mental retardation partial trisomy 6p reciprocal translocation |
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