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De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.
J Med Genet. 1985 Feb; 22(1):64-6.JM

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.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2984424

Citation

Motegi, T, et al. "De Novo Tandem Duplication 9p (p12----p24) With Normal GALT Activity in Red Cells." Journal of Medical Genetics, vol. 22, no. 1, 1985, pp. 64-6.
Motegi T, Watanabe K, Nakamura N, et al. De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells. J Med Genet. 1985;22(1):64-6.
Motegi, T., Watanabe, K., Nakamura, N., Hasegawa, T., & Yanagawa, Y. (1985). De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells. Journal of Medical Genetics, 22(1), 64-6.
Motegi T, et al. De Novo Tandem Duplication 9p (p12----p24) With Normal GALT Activity in Red Cells. J Med Genet. 1985;22(1):64-6. PubMed PMID: 2984424.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells. AU - Motegi,T, AU - Watanabe,K, AU - Nakamura,N, AU - Hasegawa,T, AU - Yanagawa,Y, PY - 1985/2/1/pubmed PY - 1985/2/1/medline PY - 1985/2/1/entrez SP - 64 EP - 6 JF - Journal of medical genetics JO - J. Med. Genet. VL - 22 IS - 1 N2 - 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. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/2984424/De_novo_tandem_duplication_9p__p12____p24__with_normal_GALT_activity_in_red_cells_ L2 - http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=2984424 DB - PRIME DP - Unbound Medicine ER -