De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.
- 1 February 1985
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 22 (1) , 64-66
- https://doi.org/10.1136/jmg.22.1.64
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.Keywords
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