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Research Article
De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.
  1. T Motegi,
  2. K Watanabe,
  3. N Nakamura,
  4. T Hasegawa,
  5. Y Yanagawa

    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.

    https://doi.org/10.1136/jmg.22.1.64

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