CHROMOSOME-6Q AND ASSOCIATED MALFORMATIONS
- 1 January 1978
- journal article
- research article
- Vol. 21 (4), 223-225
Abstract
A dysmorphic retarded 14 mo. old female with partial deletion of the long arm of chromosome 6 is presented. The breakpoint in 6q was in region 2, probably at band 5. Other infants [8] with a deletion involving the long arm of chromosome 6, including 5 with a ring chromosome 6, were reported. The affected individuals all had microcephaly, micrognathia, hypotonia and psychomotor retardation, but did not appear to have a distinctive phenotype.This publication has 3 references indexed in Scilit:
- Linkage between the Gene (or Genes) Controlling Synthesis of the Fourth Component of Complement and the Major Histocompatibility ComplexNew England Journal of Medicine, 1977
- Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6.Proceedings of the National Academy of Sciences, 1977
- RING-6 CHROMOSOME - NON SPECIFIC CLINICAL PICTURE1977