Abstract
A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, multiple skin pigmentations, and renal abnormalities. The parents had normal karyotypes.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Franceschini P., Cirillo Silengo M., Davi G., Bianco R., Biagioli M. Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies. Hum Genet. 1983;64(1):97–97. doi: 10.1007/BF00289488. [DOI] [PubMed] [Google Scholar]
- Martsolf J. T., Ray M. Interstitial deletion of the long arm of chromosome 3. Ann Genet. 1983;26(2):98–99. [PubMed] [Google Scholar]
- Williamson R. A., Donlan M. A., Dolan C. R., Thuline H. C., Harrison M. T., Hall J. G. Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring. Am J Med Genet. 1981;9(2):105–111. doi: 10.1002/ajmg.1320090204. [DOI] [PubMed] [Google Scholar]