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. 1979 Jan;63(1):40–44. doi: 10.1136/bjo.63.1.40

Rieger's syndrome with pericentric inversion of chromosome 6.

M H Heinemann, R Breg, E Cotlier
PMCID: PMC1043384  PMID: 760775

Abstract

Pericentric inversion of chromosome 6 (6p+q-) was found in a girl with Rieger's syndrome and in her father. The only ocular signs in the father were prominent iris mounds and Schwalbe's line. The association of chromosomal anomalies with Rieger's syndrome indicates the need for a chromosome banding test in familial or sporadic patients with the syndrome and in patients with mild anomalies of the anterior chamber angle.

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Selected References

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  1. Apple D. J., Holden J. D., Stallworth B. Ocular pathology of Patau's syndrome with an unbalanced D-D translocation. Am J Ophthalmol. 1970 Sep;70(3):383–391. doi: 10.1016/0002-9394(70)90099-1. [DOI] [PubMed] [Google Scholar]
  2. BURIAN H. M., RICE M. H., ALLEN L. External visibility of the region of Schlemm's canal; report on a family with developmental anomalies of cornea, iris, and chamber angle. AMA Arch Ophthalmol. 1957 May;57(5):651–658. [PubMed] [Google Scholar]
  3. Barnett K. C., Knight G. C. Persistent pupillary membrane and associated defects in the Basenji. Vet Rec. 1969 Aug 30;85(9):242–248. doi: 10.1136/vr.85.9.242. [DOI] [PubMed] [Google Scholar]
  4. Cotlier E., Reinglass H., Rosenthal I. The eye in the partial trisomy 2q syndrome. Am J Ophthalmol. 1977 Aug;84(2):251–258. doi: 10.1016/0002-9394(77)90859-5. [DOI] [PubMed] [Google Scholar]
  5. DE GROUCHY J. CHROMOSOME 18: A TOPOLOGIC APPROACH. J Pediatr. 1965 Feb;66:414–431. doi: 10.1016/s0022-3476(65)80198-6. [DOI] [PubMed] [Google Scholar]
  6. EDWARDS J. H., HARNDEN D. G., CAMERON A. H., CROSSE V. M., WOLFF O. H. A new trisomic syndrome. Lancet. 1960 Apr 9;1(7128):787–790. doi: 10.1016/s0140-6736(60)90675-9. [DOI] [PubMed] [Google Scholar]
  7. Ginsberg J., Perrin E. V., Sueoka W. T. Ocular manifestations of trisomy 18. Am J Ophthalmol. 1968 Jul;66(1):59–67. doi: 10.1016/0002-9394(68)91788-1. [DOI] [PubMed] [Google Scholar]
  8. Goddé-Jolly D., Bonnenfant F., Raoul O., Clergue G., Mallet R., Lejeune J. A propos d'un cas de glaucome congénital associé à une anomalie chromosomique. Bull Soc Ophtalmol Fr. 1970 Sep-Oct;70(9):875–881. [PubMed] [Google Scholar]
  9. Keith C. G. The ocular findings in the trisomy syndromes. Proc R Soc Med. 1968 Mar;61(3):251–253. doi: 10.1177/003591576806100322. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. LELE K. P., DENT T., DELHANTY J. D. CHROMOSOME STUDIES IN FIVE CASES OF COLOBOMA OF THE IRIS. Lancet. 1965 Mar 13;1(7385):576–578. doi: 10.1016/s0140-6736(65)91148-7. [DOI] [PubMed] [Google Scholar]
  11. LOWE R. F. The eyes in mongolism. Br J Ophthalmol. 1949 Mar;33(3):131–174. doi: 10.1136/bjo.33.3.131. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Lamm L. U., Friedrich U., Petersen C. B., Jorgensen J., Nielsen J., Therkelsen A. J., Kissmeyer-Nielsen F. Assignment of the major histocompatibility complex to chromosome No. 6 in a family with a pericentric inversion. Hum Hered. 1974;24(3):273–284. doi: 10.1159/000152660. [DOI] [PubMed] [Google Scholar]
  13. Mikelsaar A. V., Ananjev E. V., Gindilis V. M. Probable pericentric inversion in chromosome no. 1 in a female child (46,XX,inv(Ip+q-). Humangenetik. 1970;9(4):316–324. doi: 10.1007/BF00286996. [DOI] [PubMed] [Google Scholar]
  14. PATAU K., SMITH D. W., THERMAN E., INHORN S. L., WAGNER H. P. Multiple congenital anomaly caused by an extra autosome. Lancet. 1960 Apr 9;1(7128):790–793. doi: 10.1016/s0140-6736(60)90676-0. [DOI] [PubMed] [Google Scholar]
  15. ROHDE R. A., CATZ B. MATERNAL TRANSMISSION OF A NEW GROUP-C(6/9) CHROMOSOMAL SYNDROME. Lancet. 1964 Oct 17;2(7364):838–840. doi: 10.1016/s0140-6736(64)90688-9. [DOI] [PubMed] [Google Scholar]
  16. Russell M. A., Cole P. V., Brown E. Absorption by non-smokers of carbon monoxide from room air polluted by tobacco smoke. Lancet. 1973 Mar 17;1(7803):576–579. doi: 10.1016/s0140-6736(73)90718-6. [DOI] [PubMed] [Google Scholar]
  17. SMITH D. W., PATAU K., THERMAN E., INHORN S. L., DEMARS R. I. The D-I trisomy syndrome. J Pediatr. 1963 Mar;62:326–341. doi: 10.1016/s0022-3476(63)80129-8. [DOI] [PubMed] [Google Scholar]
  18. Schmid W. Pericentric inversions. Report on two malformation cases suggestive of parental inversion heterozygosity. J Genet Hum. 1967 Jun;16(1):89–96. [PubMed] [Google Scholar]
  19. Tabbara K. F., Khouri F. P., Kaloustian VM der Reiger's syndrome with chromosomal anomaly (report of a case). Can J Ophthalmol. 1973 Jul;8(3):488–491. [PubMed] [Google Scholar]
  20. Tinning S., Jacobsen P., Mikkelsen M. A, 1;6, translocation associated with congenital glaucoma and cleft lip and palate. Hum Hered. 1975;25(6):453–460. doi: 10.1159/000152760. [DOI] [PubMed] [Google Scholar]
  21. Waring G. O., 3rd, Rodrigues M. M., Laibson P. R. Anterior chamber cleavage syndrome. A stepladder classification. Surv Ophthalmol. 1975 Jul-Aug;20(1):3–27. doi: 10.1016/0039-6257(75)90034-x. [DOI] [PubMed] [Google Scholar]
  22. Yanoff M., Rorke L. B., Niederer B. S. Ocular and cerebral abnormalities in chromosome 18 deletion defect. Am J Ophthalmol. 1970 Sep;70(3):391–402. doi: 10.1016/0002-9394(70)90100-5. [DOI] [PubMed] [Google Scholar]

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