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PMID: 293131 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23.

American journal of medical genetics ·Vol. 4 ·No. 2 ·1979-00-00 ·Pages 167-72

Emanuel BS, Zackai EH, Van Dyke DC, Swallow DM, Allen FH, Mellman WJ

Abstract

The human red cell acid phosphatase (ACP1) locus was assigned to region 2p23 leads to 2pter by Ferguson-Smith et al [3], more specifically to 2p23 by Hamerton et al [5]. We describe two unrelated patients with deletion of chromosome 2, with similar breakpoints in the distal portion of band p23 (del(2) (p23)). ACP1 typing in both patients revealed heterozygous BA phenotypes. Thus, we assign the locus for ACP1 to the distal portion of 2p23.

MeSH Terms
Abnormalities, Multiple/enzymology,genetics Acid Phosphatase/genetics Chromosome Deletion Chromosome Mapping Chromosomes, Human, 1-3 Female Genetic Markers Humans Infant, Newborn Male Phenotype
Chemicals
Genetic Markers Acid Phosphatase
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Emanuel B S
Zackai E H
Van Dyke D C
Swallow D M
Allen F H
Mellman W J
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
1979-00-00
Pages
167-72
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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