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Familial partial trisomy 5p resulting from segregation of an insertional translocation
K H Gustavson1, P O Lundberg, P Nicol
1Department of Clinical Genetics, Academic Hospital, Uppsala, Sweden.
Clinical Genetics
|June 1, 1988
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.