Abstract
We report a malformed girl with a single chromosome band deletion of 4q26 in peripheral lymphocytes. This patient is the fourth case reported with an interstitial deletion involving 4q26 and has the smallest deletion of those reported. Deletion mapping indicates that psychomotor retardation, coloboma, prominent forehead, epicanthus, broad based nose, and broad, thin upper lip are associated with monosomy 4q26, and that gene(s) associated with Rieger syndrome can be excluded from the 4q26 segment.
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.
- Ikeuchi T. Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding. Cytogenet Cell Genet. 1984;38(1):56–61. doi: 10.1159/000132030. [DOI] [PubMed] [Google Scholar]
- Ligutić I., Brecević L., Petković I., Kalogjera T., Rajić Z. Interstitial deletion 4q and Rieger syndrome. Clin Genet. 1981 Nov;20(5):323–327. doi: 10.1111/j.1399-0004.1981.tb01042.x. [DOI] [PubMed] [Google Scholar]
- McKusick V. A. The human gene map 15 April 1986. Clin Genet. 1986 Jun;29(6):545–588. doi: 10.1111/j.1399-0004.1986.tb00562.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Mitchell J. A., Packman S., Loughman W. D., Fineman R. M., Zackai E., Patil S. R., Emanual B., Bartley J. A., Hanson J. W. Deletions of different segments of the long arm of chromosome 4. Am J Med Genet. 1981;8(1):73–89. doi: 10.1002/ajmg.1320080110. [DOI] [PubMed] [Google Scholar]
- Serville F., Broustet A. Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum Genet. 1977 Nov 10;39(2):239–242. doi: 10.1007/BF00287019. [DOI] [PubMed] [Google Scholar]