Fragile X-linked Mental Retardation of Macro-orchidism

Overview

Journal West J Med

Specialty General Medicine

Date 1982 Oct 1

PMID 7179944

Citations 1

Authors

B C Moore

T W Glover

F Hecht

Affiliations

Soon will be listed here.

Abstract

A fragile site near the end of the long arm (q) of the X chromosome appears to be directly related to the gene responsible for the mental retardation found among males and some females who possess this variant X chromosome. Macro-orchidism is present in most males studied. Other mild phenotypic similarities may exist. The expression of the fragile X (fra[X]) chromosome is dependent on the concentration of folic acid and thymidine in the culture medium, which partly explains why fra(X) was not noted earlier and connected promptly with X-linked mental retardation. Whereas prenatal diagnosis is now possible, genetic counseling is complicated by recent reports of "intellectually normal" fra(X) males. Further studies are needed to form solid conclusions about intellectual deficits, learning behavior or personality characteristics of fra(X) persons.

Citing Articles

Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P.

Coffee Jr R, Tessier C, Woodruff 3rd E, Broadie K Dis Model Mech. 2010; 3(7-8):471-85.

PMID: 20442204 PMC: 2898537. DOI: 10.1242/dmm.004598.

References

NIELSEN K, Tommerup N, POULSEN H, Mikkelsen M . X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers. Hum Genet. 1981; 59(1):23-5. DOI: 10.1007/BF00278849. View

DEKABAN A . Persisting clone of cells with an abnormal chromosome in a woman previously irradiated. J Nucl Med. 1965; 6(10):740-6. View

Lubs H . A marker X chromosome. Am J Hum Genet. 1969; 21(3):231-44. PMC: 1706424. View

Yarbrough K . X-linked nonspecific mental retardation. Report of a large kindred. Clin Genet. 1976; 9(2):125-30. DOI: 10.1111/j.1399-0004.1976.tb01557.x. View

Turner G, Eastman C, Casey J, McLeay A, Procopis P, Turner B . X-linked mental retardation associated with macro-orchidism. J Med Genet. 1975; 12(4):367-71. PMC: 1013315. DOI: 10.1136/jmg.12.4.367. View

Giraud F, Ayme S, Mattei J, Mattei M . Constitutional chromosomal breakage. Hum Genet. 1976; 34(2):125-36. DOI: 10.1007/BF00278880. View

Harvey J, Judge C, Wiener S . Familial X-linked mental retardation with an X chromosome abnormality. J Med Genet. 1977; 14(1):46-50. PMC: 1013506. DOI: 10.1136/jmg.14.1.46. View

Sutherland G . Marker X chromosomes and mental retardation. N Engl J Med. 1977; 296(24):1415. DOI: 10.1056/nejm197706162962423. View

Sutherland G . Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science. 1977; 197(4300):265-6. DOI: 10.1126/science.877551. View

10.

Deroover J, Fryns J, Parloir C, Van Den Berghe H . X-linked recessively inherited non-specific mental retardation. Report of a large family. Ann Genet. 1977; 20(4):263-8. View

11.

Turner G, Till R, Daniel A . Marker X chromosomes, mental retardation and macro-orchidism. N Engl J Med. 1978; 299(26):1472. DOI: 10.1056/NEJM197812282992625. View

12.

Jacobs P, Mayer M, Rudak E, Gerrard J, Ives E, Shokeir M . More on marker X chromosomes, mental retardation and macro-orchidism. N Engl J Med. 1979; 300(13):737-8. DOI: 10.1056/nejm197903293001320. View

13.

Sutherland G . Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture. Am J Hum Genet. 1979; 31(2):125-35. PMC: 1685753. View

14.

Stoddard G, Mims M . Familial X-linked mental retardation, verbal disability, and marker X chromosomes. Am J Hum Genet. 1979; 31(2):214-22. PMC: 1685770. View

15.

Sutherland G, Ashforth P . X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28. Hum Genet. 1979; 48(1):117-20. DOI: 10.1007/BF00273283. View

16.

McBride G . Fragile X chromosome related to mental retardation in males. JAMA. 1979; 242(17):1829-30. DOI: 10.1001/jama.242.17.1829. View

17.

Stoddard G . X-linked mental retardation with macro-orchidism and marker X chromosomes. Hum Genet. 1979; 50(3):247-51. DOI: 10.1007/BF00399389. View

18.

Jacky P, Dill F . Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation. Hum Genet. 1980; 53(2):267-9. DOI: 10.1007/BF00273509. View

19.

Stoddard G . Familial X-linked mental retardation with a marker X chromosome and its relationship to macro-orchidism. Clin Genet. 1980; 17(2):125-8. DOI: 10.1111/j.1399-0004.1980.tb00120.x. View

20.

Turner G, Daniel A, Frost M . X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J Pediatr. 1980; 96(5):837-41. DOI: 10.1016/s0022-3476(80)80552-x. View