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De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells
Journal of Medical Genetics
|February 1, 1985
Abstract:
A 3 month old boy with a tandem duplication 9p (p12----p24) is reported. Both clinical and dermatoglyphic features were consistent with those of the trisomy 9p syndrome. However, the red cell galactose-1-P uridyl transferase (GALT) activity was normal despite the presence of the duplicated segment 9p13.