A case of deletion 2q35----qter and a peculiar phenotype.
- 1 April 1984
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 21 (2) , 147-149
- https://doi.org/10.1136/jmg.21.2.147
Abstract
A girl with a high and microbrachycephalic cranium (but without craniosynostosis), antimongoloid palpebral fissures, external strabismus, microsomy, a peculiarly shaped nose, soft tissue syndactyly in the right hand and both feet, and psychomotor retardation was found to have a deletion of chromosome 2 (q35----qter) and a Robertsonian translocation 13;14 inherited from her healthy father. The girl's phenotype is compared with the only other case reported involving a similar deletion.Keywords
This publication has 5 references indexed in Scilit:
- Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23-q31).1982
- Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: Case report with autopsyHuman Pathology, 1980
- Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindredThe Journal of Pediatrics, 1976
- Etude chromosomique et clinique d'une fillette porteuse d'une deletion (2) (q34q36)Human Genetics, 1976
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971