Interstitial deletion of chromosome 3p: Report of a patient and delineation of a proximal 3p deletion syndrome
- 1 September 1984
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 19 (1) , 189-193
- https://doi.org/10.1002/ajmg.1320190119
Abstract
We report on a patient with a de novo interstitial deletion of the proximal portion of the short arm of chromosome 3 (p12 → 14.2). The deleted portion excludes the constitutive fragile site assigned to band 3p14. The phenotype of the patient, together with that of three previously reported cases, seems to be sufficiently characteristic to allow the delineation of a proximal 3p deletion syndrome.Keywords
This publication has 7 references indexed in Scilit:
- Constitutive fragile sites 1p31, 3p14, 6q26, and 16q23 and their use as controls for false‐negative results with the fragile(X)American Journal of Medical Genetics, 1984
- Down syndrome—a disruption of homeostasisAmerican Journal of Medical Genetics, 1983
- The fragile X(q27) form of X-linked mental retardation: FUdR as an inducing agent for fra(X)(q27) expression in lymphocytes, fibroblasts, and amniocytesAmerican Journal of Medical Genetics, 1982
- Specific Chromosome Defect Associated with Human Small-Cell Lung Cancer: Deletion 3p(14-23)Science, 1982
- A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding techniqueHuman Genetics, 1981
- The anatomy of the human genomeJournal of Heredity, 1980
- Interstitial deletion 3p associated with t(3p−;18q+) translocationJournal of Human Genetics, 1979