Duplication of 2p25: Confirmation of the Assignment of Soluble Acid Phosphatase (ACP1) Locus to 2p25

Overview

Journal Hum Genet

Specialty Genetics

Date 1985 Jan 1

PMID 4065897

Citations 3

Authors

Y Wakita

K Narahara

Y Takahashi

K Kikkawa

S Kimura

M Oda

H Kimoto

Affiliations

Soon will be listed here.

Abstract

The regional localization of the gene coding for soluble acid phosphatase (ACP1) has been under debate in the two different chromosome regions, 2p23 or 2p25. Gene dosage studies in a case with a karyotype of 46,XX,dir dup(2) (p25.1----p25.3) showed that the ACP1 activity was increased to 1.4 times the mean value of normal individuals with the same ACP1 phenotype, while the level of soluble malate dehydrogenase (MDH1) was normal. These gene dosage effects indicated that the ACP1 gene locus can be mapped to 2p25.

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Fetal Cystic Hygroma Associated with Terminal 2p25.1 Duplication and Terminal 3p25.3 Deletion: Cytogenetic, Fluorescent Hybridization and Microarray Familial Characterization of Two Different Chromosomal Structural Rearrangements.

Stipoljev F, Barbalic M, Logara M, Vicic A, Vulic M, Zekic Tomas S Balkan J Med Genet. 2021; 23(2):79-86.

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Duplication 2p25 in a child with clinical features of CHARGE syndrome.

Sperry E, Schuette J, van Ravenswaaij-Arts C, Green G, Martin D Am J Med Genet A. 2016; 170A(5):1148-54.

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Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

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References

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