Abstract
The locus for acid phosphatase (ACP1) had been alternately assigned to two conflicting regions on the short arm of chromosome 2. We present a clinical and cytogenetic report of one patient who has an interstitial deletion of 2, del(2) (p23p25.1), and a cytogenetic study of another cell line with an interstitial deletion of 2p (p23.1p25.1). Because both patients are heterozygotes for ACP1, the assignment of ACP1 to 2p25.1----pter is supported.
Publication types
-
Case Reports
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Abnormalities, Multiple / enzymology
-
Abnormalities, Multiple / genetics*
-
Abnormalities, Multiple / pathology
-
Acid Phosphatase / blood
-
Acid Phosphatase / genetics*
-
Child
-
Chromosome Aberrations / enzymology
-
Chromosome Aberrations / genetics*
-
Chromosome Aberrations / pathology
-
Chromosome Deletion*
-
Chromosome Disorders
-
Chromosome Mapping
-
Chromosomes, Human, Pair 2 / ultrastructure*
-
Genetic Markers
-
Humans
-
Infant, Newborn
-
Intellectual Disability / genetics*
-
Microcephaly / genetics*
-
Seizures / genetics
Substances
-
Genetic Markers
-
Acid Phosphatase