Ring chromosome 7: Report of the fifth case
- 1 April 1990
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 149 (7) , 475-476
- https://doi.org/10.1007/bf01959398
Abstract
A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities.This publication has 7 references indexed in Scilit:
- Does ?ring syndrome? exist? An analysis of 207 case reports on patients with a ring autosomeHuman Genetics, 1987
- Chromosome 7 short arm deletion, 7p21?pterHuman Genetics, 1986
- Cytogenetics of ring chromosome 7Clinical Genetics, 1984
- A fourth case of ring chromosome 7Clinical Genetics, 1982
- THE CYTOGENETIC AND CLINICAL IMPLICATIONS OF A RING CHROMOSOME-21981
- A ring C7 chromosome in a mentally and physically retarded male with various somatic abnormalitiesJournal of Human Genetics, 1977
- Ring chromosome 7 with variable phenotypic expressionCytogenetic and Genome Research, 1973