Ring chromosome 2: Clinical, chromosomal, and biochemical aspects
- 1 February 1982
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 60 (1) , 91-95
- https://doi.org/10.1007/bf00281274
Abstract
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 in the 2p25→2pter region.This publication has 18 references indexed in Scilit:
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