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Familial partial trisomy 5p resulting from segregation of an insertional translocation |
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| Authors: | Karl-Henrik Gustavson Per Olov Lundberg Peter Nicol |
| Affiliation: | Department of Clinical Genetics, Academic Hospital, Uppsala, Sweden. |
| Abstract: | A case of duplication of segment p13-p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. Some of the apparently balanced carriers of the inverted insertion showed minor congenital anomalies. |
| Keywords: | congenital anomalies insertional translocation mental retardation partial trisomy 5p |