PARTIAL 8P-SYNDROME
- 1 January 1980
- journal article
- research article
- Vol. 28 (4) , 123-139
Abstract
A terminal deletion in the short arm of chromosome 8 (:p21 .fwdarw. qter) was found in a 2-yr-old girl with dysmorphic craniofacial features and developmental retardation. Clinical features are compared with previously published cases and suggest a recognizable syndrome.This publication has 7 references indexed in Scilit:
- The 8p- syndromeHuman Genetics, 1979
- PROBABLE ASSIGNMENT OF GLUTATHIONE REDUCTASE (EC 1 6 4 2) LOCUS TO BAND 8P211977
- PARTIAL MONOSOMY 8P1977
- Small structural changes of chromosome 8Human Genetics, 1977
- New chromosomal malformation syndromesEuropean Journal of Nuclear Medicine and Molecular Imaging, 1977
- A new chromosome deletion syndrome. Report of a patient with a 46, XY,8p‐ chromosome constitutionClinical Genetics, 1976
- Gene dose effect: regional mapping of human glutathione reductase on chromosome 8Cytogenetic and Genome Research, 1976