Abstract
A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.
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- Freimer N. B., Sandkuijl L. A., Blower S. M. Incorrect specification of marker allele frequencies: effects on linkage analysis. Am J Hum Genet. 1993 Jun;52(6):1102–1110. [PMC free article] [PubMed] [Google Scholar]
- Jorgenson R. J., Levin L. S., Cross H. E., Yoder F., Kelly T. E. The Rieger syndrome. Am J Med Genet. 1978;2(3):307–318. doi: 10.1002/ajmg.1320020310. [DOI] [PubMed] [Google Scholar]
- Lathrop G. M., Lalouel J. M., Julier C., Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985 May;37(3):482–498. [PMC free article] [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]
- Mills K. A., Buetow K. H., Xu Y., Weber J. L., Altherr M. R., Wasmuth J. J., Murray J. C. Genetic and physical maps of human chromosome 4 based on dinucleotide repeats. Genomics. 1992 Oct;14(2):209–219. doi: 10.1016/s0888-7543(05)80208-3. [DOI] [PubMed] [Google Scholar]
- Murray J. C., Bennett S. R., Kwitek A. E., Small K. W., Schinzel A., Alward W. L., Weber J. L., Bell G. I., Buetow K. H. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 1992 Sep;2(1):46–49. doi: 10.1038/ng0992-46. [DOI] [PubMed] [Google Scholar]
- Nielsen F., Trånebjaerg L. A case of partial monosomy 21q22.2 associated with Rieger's syndrome. J Med Genet. 1984 Jun;21(3):218–221. doi: 10.1136/jmg.21.3.218. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ott J. Strategies for characterizing highly polymorphic markers in human gene mapping. Am J Hum Genet. 1992 Aug;51(2):283–290. [PMC free article] [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]
- Stathacopoulos R. A., Bateman J. B., Sparkes R. S., Hepler R. S. The Rieger syndrome and a chromosome 13 deletion. J Pediatr Ophthalmol Strabismus. 1987 Jul-Aug;24(4):198–203. doi: 10.3928/0191-3913-19870701-12. [DOI] [PubMed] [Google Scholar]