Deletion of 2p: a cytogenetic and clinical update.
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.
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D000135:Acid Phosphatase / Q000097:blood / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure*; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D012640:Seizures / Q000235:genetics
D005819:Genetic Markers; D000135:Acid Phosphatase