DELETION SHORT ARM 18 AND SILVER‐RUSSELL SYNDROME
- 21 January 1978
- journal article
- research article
- Published by Wiley in Acta Paediatrica
- Vol. 67 (1) , 101-103
- https://doi.org/10.1111/j.1651-2227.1978.tb16284.x
Abstract
A 14 yr old boy presented with physical signs of the Silver-Russell syndrome. He also had low-set, large protruding ears, ptosis, broad nasal base, thick protruding lips, pronounced caries, malignment of teeth, micrognathia and mental retardation. Chromosome examination showed deletion of the short arms of chromosome No. 18. Considering the previous findings of chromosome No. 18 aberrations in some patients with Silver-Russell syndrome such patients should always have chromosome examination made.Keywords
This publication has 3 references indexed in Scilit:
- Trisomy‐18 Mosaicism with Features of Russell‐Silver SyndromeDevelopmental Medicine and Child Neurology, 1975
- 45, X/46, XY Chromosome Mosaic with Features of the Russell‐Silver Syndrome: a Case Report with a Review of the LiteratureDevelopmental Medicine and Child Neurology, 1972
- CONGENITAL ASYMMETRY ASSOCIATED WITH DIPLOID-TRIPLOID MOSAICISM AND LARGE SATELLITESThe Lancet, 1964