Late-replicating Ring X-chromosomes Identified by R-banding After BrdU Pulse. Three New Examples of Mosaicism 45, XO/46, Xr(X)

Overview

Journal Hum Genet

Specialty Genetics

Date 1976 Sep 10

PMID 61162

Citations 6

Authors

A Hagemeijer

J Hoovers

D BOOTSMA

Affiliations

Soon will be listed here.

Abstract

A detailed chromosome analysis was carried out in 3 patients presenting the mosaicism, 45, XO/46,Xr(X). In 2 patients, the r(X) chromosome was found to be late-replicating using R-banding techniques after a BrdU pulse administered 6 h before harvesting the leukocyte culture. The clinical symptomatology presents the great variability already observed in association with this karyotype. Only a short stature was common to the 3 patients. Case 1 is a 6-year-old girl with moderate mental retardation; case 2 is a 16-year-old girl with primary amenorrhea and absence of secondary sexual characteristics; case 3 is a 24-year-old woman whose puberty and normal sexual development occurred at age 17.

Citing Articles

Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

Wolff D, Brown C, Schwartz S, Duncan A, Surti U, Willard H Am J Hum Genet. 1994; 55(1):87-95.

PMID: 8023855 PMC: 1918222.

Inactivation pattern of the fragile X in heterozygous carriers.

Fryns J, Kleczkowska A, Kubien E, Petit P, Van Den Berghe H Hum Genet. 1984; 65(4):400-1.

PMID: 6693128 DOI: 10.1007/BF00291567.

Activity of the fragile X in heterozygous carriers.

UCHIDA I, Joyce E Am J Hum Genet. 1982; 34(2):286-93.

PMID: 6176123 PMC: 1685287.

Structural aberrations of the X chromosome in man.

DAVIDENKOVA E, Verlinskaja D, Mashkova M Hum Genet. 1978; 41(3):269-79.

PMID: 649155 DOI: 10.1007/BF00284761.

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

Lindenbaum R, Clarke G, Patel C, Moncrieff M, Hughes J J Med Genet. 1979; 16(5):389-92.

PMID: 513085 PMC: 1012616. DOI: 10.1136/jmg.16.5.389.

References

Evans H . A SIMPLE MICROTECHNIQUE FOR OBTAINING HUMAN CHROMOSOME PREPARATIONS WITH SOME COMMENTS ON DNA REPLICATION IN SEX CHROMOSOMES OF THE GOAT, COW AND PIG. Exp Cell Res. 1965; 38:511-6. DOI: 10.1016/0014-4827(65)90375-7. View

LATT S . Microfluorometric detection of deoxyribonucleic acid replication in human metaphase chromosomes. Proc Natl Acad Sci U S A. 1973; 70(12):3395-9. PMC: 427244. DOI: 10.1073/pnas.70.12.3395. View

DEMINATTI M, Maillard E, Fossati P, Bulteel M . [Apropos of a cas of ring chromosome X]. Ann Genet. 1968; 11(1):56-8. View

Paolini P, Berger R, Rethore M, LAFOURCADE J, LeJeune J . [On a case of an X chromosome in a ring]. Ann Genet. 1966; 9(2):78-9. View

Kistenmacher M, Punnett H . Comparative behavior of ring chromosomes. Am J Hum Genet. 1970; 22(3):304-18. PMC: 1706549. View

COHEN M, Sandberg A, Takagi N, MACGILLIVRAY M . Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis. Cytogenetics. 1967; 6(3):254-67. DOI: 10.1159/000129946. View

THERMAN E, PATAU K . Abnormal X chromosomes in man: origin, behavior and effects. Humangenetik. 1974; 25(1):1-16. DOI: 10.1007/BF00281002. View

Verma R, Lubs H . A simple R banding technic. Am J Hum Genet. 1975; 27(1):110-7. PMC: 1762781. View

HUSTINX T, STOELINGA G . A RING-X-CHROMOSOME IN PART OF THE SOMATIC CELLS OF A PATIENT WITH SOME CHARACTERISTICS OF THE TURNER SYNDROME. Genetica. 1964; 35:1-14. DOI: 10.1007/BF01804870. View

10.

CASPERSSON T, LINDSTEN J, ZECH L . The nature of structural X chromosome aberrations in Turner's syndrome as revealed by quinacrine mustard fluorescence analysis. Hereditas. 1970; 66(2):287-92. DOI: 10.1111/j.1601-5223.1970.tb02352.x. View

11.

Schmid W, Naef E, MURSET G, PRADER A . Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes. Humangenetik. 1974; 24(2):93-104. DOI: 10.1007/BF00283766. View

12.

Simpson J . Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations. Birth Defects Orig Artic Ser. 1975; 11(4):23-59. View

13.

Bain A, Gauld I, Farquhar J . A ring X chromosome in dwarfism. Lancet. 1965; 1(7389):820. DOI: 10.1016/s0140-6736(65)92992-2. View

14.

Ferguson-Smith M . KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS. J Med Genet. 1965; 2(2):142-55. PMC: 1012851. DOI: 10.1136/jmg.2.2.142. View

15.

Sarto G, THERMAN E, PATAU K . Increased Q fluorescence of an inactive Xq-chromosome in man. Clin Genet. 1974; 6(4):289-93. DOI: 10.1111/j.1399-0004.1974.tb02089.x. View

16.

LeJeune J . [On the duplication of circular structures]. Ann Genet. 1968; 11(2):71-7. View

17.

BAUE G . [Turner's syndrome with ring chromosome and daltonism: origin of atypic chromosome]. Bull Fed Soc Gynecol Obstet Lang Fr. 1967; 19(4):343-50. View

18.

NEU R, Kajii T, VOORHESS M, GARDNER L . Triple (45,X-46,XXr-46,XX) mosaicism in a phenotypic female. J Pediatr. 1969; 74(5):794-9. DOI: 10.1016/s0022-3476(69)80146-0. View

19.

CASPERSSON T, ZECH L, Johansson C, MODEST E . Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma. 1970; 30(2):215-27. DOI: 10.1007/BF00282002. View

20.

Singh R, Carr D . The anatomy and histology of XO human embryos and fetuses. Anat Rec. 1966; 155(3):369-83. DOI: 10.1002/ar.1091550309. View