[Late replication and X-autosome traslocation a case with banding patterns autoradiographic and B.U.D.R. studies (author's transl)]
- PMID: 50264
[Late replication and X-autosome traslocation a case with banding patterns autoradiographic and B.U.D.R. studies (author's transl)]
Abstract
A patient with ovarian failure was found to have a segment of the long arm of an X chromosome translocated to the distal end of the short arm of a 2nd chromosome: 46,Xt(X;2) (q21;p25). The Barr bodies were of normal size. Autoradiographic and B.U.D.R. studies showed that the normal X was the late-replicating X. The translocated segment was late replicating in 5% without spreading effect. It is suggested that preferential inactivation of the normal X chromosome is observed when a segment of X chromosome is translocated onto an autosome. When a segment of autosome is translocated onto an X chromosome the abnormal X chromosome is consistently late-replicating. These findings may be available for other mammalian species in the balanced translocations.
Similar articles
-
[Chronology of the replication of sex chromosome bands in lymphocytes of normal subjects and patients].Ann Genet. 1978 Sep;21(3):133-41. Ann Genet. 1978. PMID: 315188 French.
-
Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases.Am J Med Genet. 1992 Jan 15;42(2):161-9. doi: 10.1002/ajmg.1320420205. Am J Med Genet. 1992. PMID: 1733164 Review.
-
[Four new cases of X-autosome translocation in man (author's transl)].Humangenetik. 1975;26(1):35-46. doi: 10.1007/BF00280283. Humangenetik. 1975. PMID: 50265 French.
-
Noninactivation of a portion of Xq28 in a balanced X-autosome translocation.Am J Med Genet. 1992 Jan 15;42(2):156-60. doi: 10.1002/ajmg.1320420204. Am J Med Genet. 1992. PMID: 1733163
-
Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature.Am J Med Genet. 1994 Aug 1;52(1):19-26. doi: 10.1002/ajmg.1320520105. Am J Med Genet. 1994. PMID: 7977456 Review.
Cited by
-
X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter.Hum Genet. 1981;59(4):290-6. doi: 10.1007/BF00295460. Hum Genet. 1981. PMID: 7333583
-
Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy.Am J Hum Genet. 1976 May;28(3):213-27. Am J Hum Genet. 1976. PMID: 1266850 Free PMC article.
-
Inactivation centers in the human X chromosome.Am J Hum Genet. 1982 Mar;34(2):182-94. Am J Hum Genet. 1982. PMID: 6985472 Free PMC article.
-
Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.J Med Genet. 1981 Dec;18(6):442-7. doi: 10.1136/jmg.18.6.442. J Med Genet. 1981. PMID: 7334502 Free PMC article.
-
Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.J Med Genet. 1980 Jun;17(3):216-21. doi: 10.1136/jmg.17.3.216. J Med Genet. 1980. PMID: 7401133 Free PMC article.