X Inactivation in Man: a Woman with T(Xq--;12q+)

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1973 May 1

PMID 4704858

Citations 44

Authors

G E Sarto

E THERMAN

K PATAU

Affiliations

Soon will be listed here.

Citing Articles

Maternal X chromosome pericentric inversion resulting in the genetic analysis of offspring pedigrees with deletions at Xp22.33 and Xp22.33p11.3, and duplications at Xq27.3q28: Case report.

Deng G, Lai Y, Luo B, Luo Y, Zhu L, Yang Z Medicine (Baltimore). 2025; 104(2):e41255.

PMID: 39792721 PMC: 11730400. DOI: 10.1097/MD.0000000000041255.

X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature.

Peng Z, Yang R, Liu Q, Chen B, Long P Mol Cytogenet. 2024; 17(1):7.

PMID: 38570848 PMC: 10988863. DOI: 10.1186/s13039-024-00676-2.

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review.

Liu S, Zheng J, Liu X, Lai Y, Zhang X, He T Mol Cytogenet. 2023; 16(1):7.

PMID: 37202823 PMC: 10193739. DOI: 10.1186/s13039-023-00639-z.

Mild phenotypes associated with an unbalanced X-autosome translocation, 46,X,der(X)t(X;8)(q28;q13).

Watanabe T, Ishibashi M, Suganuma R, Ohara M, Soeda S, Komiya H Clin Case Rep. 2018; 6(8):1561-1564.

PMID: 30147905 PMC: 6099023. DOI: 10.1002/ccr3.1596.

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3).

Chen J, Liu P, Hu L, Xie Q, Huang Q, Liu H Mol Cytogenet. 2018; 11:37.

PMID: 29946361 PMC: 6001049. DOI: 10.1186/s13039-018-0381-5.

References

Gustavsson I, Fraccaro M, TIEPOLO L, LINDSTEN J . Presumptive x-autosome translocation in a cow: preferential inactivation of the normal x chromosome. Nature. 1968; 218(5137):183-4. DOI: 10.1038/218183a0. View

SERGOVICH F, Valentine G, Chen A, Kinch R, Smout M . Chromosome aberrations in 2159 consecutive newborn babies. N Engl J Med. 1969; 280(16):851-5. DOI: 10.1056/NEJM196904172801602. View

COHEN M, Capraro V, Takagi N . Pericentric inversion in a group D chromosome (13-15) associated with amenorrhea and gonadal dysgenesis. Ann Hum Genet. 1967; 30(4):313-23. DOI: 10.1111/j.1469-1809.1967.tb00032.x. View

Sinha A, NORA J . Evidence for X-X chromosome translocation in humans. Ann Hum Genet. 1969; 33(2):117-24. DOI: 10.1111/j.1469-1809.1969.tb01638.x. View

Lubs H, Ruddle F . Chromosomal abnormalities in the human population: estimation of rates based on New Haven newborn study. Science. 1970; 169(3944):495-7. DOI: 10.1126/science.169.3944.495. View

Russell L, Montgomery C . Comparative studies on X-autosome translocations in the mouse. II. Inactivation of autosomal loci, segregation, and mapping of autosomal breakpoints in five T (X;1) S. Genetics. 1970; 64(2):281-312. PMC: 1212403. DOI: 10.1093/genetics/64.2.281. View

CASPERSSON T, ZECH L, MODEST E . Fluorescent labeling of chromosomal DNA: superiority of quinacrine mustard to quinacrine. Science. 1970; 170(3959):762. DOI: 10.1126/science.170.3959.762. View

Thorburn M, Martin P, Pathak U . Possible X-autosomal translocation in a girl with gonadal dysgenesis. J Med Genet. 1970; 7(4):402-6. PMC: 1468943. DOI: 10.1136/jmg.7.4.402. View

Thelen T, Abrams D, FISCH R . Multiple abnormalities due to possible genetic inactivation in an X-autosome translocation. Am J Hum Genet. 1971; 23(4):410-8. PMC: 1706708. View

10.

Engel W, Vogel W, REINWEIN H . [Autoradiographic studies on X-autosomal translocation in man: 45,X.15-,tan(15qZq+)+]. Cytogenetics. 1971; 10(2):87-98. View

11.

Grzeschik K, Allderdice P, Grzeschik A, Opitz J, MILLER O, SINISCALCO M . Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). Proc Natl Acad Sci U S A. 1972; 69(1):69-73. PMC: 427546. DOI: 10.1073/pnas.69.1.69. View

12.

BUCKTON K, Jacobs P, Rae L, Newton M, SANGER R . An inherited X-autosome translocation in man. Ann Hum Genet. 1971; 35(2):171-8. DOI: 10.1111/j.1469-1809.1956.tb01390.x. View

13.

Jacobs P, Frackiewicz A, Law P . Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann Hum Genet. 1972; 35(3):301-19. DOI: 10.1111/j.1469-1809.1957.tb01403.x. View

14.

Mann J, VALDMANIS A, CAPPS S, PUITE R . A CASE OF PRIMARY AMENORRHEA WITH A TRANSLOCATION INVOLVING CHROMOSOMES OF GROUPS B AND C. Am J Hum Genet. 1965; 17:377-83. PMC: 1932646. View