Possible intrachromosomal duplication in a case of trisomy 9p |
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Authors: | H Chiyo J Furuyama N Suehara Y Obashi H Kikkawa F Ikoma |
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Institution: | (1) Department of Genetics, Hyogo College of Medicine, Mukogawa-cho 1-1, Nishinomiya, Japan;(2) Department of Urology, Hyogo College of Medicine, Mukogawa-cho 1-1, Nishinomiya, Japan |
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Abstract: | Summary A 5-year-old boy with multiple minor anomalies and mental retardation was found to have chromosomal condition of 46,XY,inv dup(9p)(pterp13::p21p24::p13qter). The clinical features of the propositus fit well with those of trisomy 9p which have been established to be a clinical entity. |
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