Deletion of the short arm of chromosome 3: a case report with necropsy findings.
Open Access
- 1 August 1984
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 21 (4) , 307-310
- https://doi.org/10.1136/jmg.21.4.307
Abstract
A male infant with partial deletion of the short arm of chromosome 3 is described. The features this patient shares with six previously reported cases include microcephaly, dolichocephaly, micrognathia, epicanthic folds, ptosis, low set or malformed ears, postaxial polydactyly, and growth or mental retardation or both. In addition, visceral anomalies not previously reported in association with this chromosomal abnormality are described. These characteristics may constitute a recognisable clinical syndrome.Keywords
This publication has 5 references indexed in Scilit:
- Renal Cysts in Pediatric Autopsy MaterialNephron, 1983
- A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25).Journal of Medical Genetics, 1982
- Partial deletion of the short arm of chromosome 3European Journal of Pediatrics, 1981
- PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME-3 - REPORT OF A CASE1980
- A Patient With a Partial Deletion of the Short Arm of Chromosome 3American Journal of Diseases of Children, 1978