Ring chromosome 2: clinical, chromosomal, and biochemical aspects.
A new case of ring chromosome 2 is described and compared with the five cases hitherto reported. The clinical picture includes a severe pre- and postnatal growth failure, microcephaly, psychomotor retardation, and some minor dysmorphic features. Cytogenetic studies revealed a ring 2 structure and aneuploidy. Banding analysis failed to demonstrate a substantial loss of chromosomal material. Enzymologic studies revealed a decrease of red cell acid phosphatase activity suggesting the localization of its gene inthe 2p25 leads to 2 pter region.
D000135:Acid Phosphatase / Q000235:genetics; D000782:Aneuploidy; D002675:Child, Preschool; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics
D000135:Acid Phosphatase