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Journal of Medical Genetics 1985;22:64-66; doi:10.1136/jmg.22.1.64
Copyright © 1985 by the BMJ Publishing Group Ltd.

De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.

T Motegi, K Watanabe, N Nakamura, T Hasegawa, Y Yanagawa

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.


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