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Literature DB >> 7386454

Failure of X inactivation in the autosomal segment of an X/A translocation.

C G Palmer, T W Hubbard, G W Henry, D D Weaver.

Abstract

A newborn with an X/A translocation (46,X,der X,t(X;17)(17pter leads to 17p13::Xp22 leads to Xqter) demonstrated multiple anomalies. X-replication studies in leukocytes of the patient with RBG (R Bands by BrdU using Giemsa stain) showed the abnormal X,t(X;17), to be late replicating except for the translocated segment. Clinical findings and replication studies suggest failure of inactivation of the translocated segment.

Entities: Species

Mesh：

Year: 1980 PMID： 7386454 PMCID： PMC1686009

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

15 in total

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Authors: B M Cattanach
Journal: Annu Rev Genet Date: 1975 Impact factor: 16.830

2. An extra small metacentric chromosome identified as a deleted chromosome no. 17.

Authors: W Palutke; H Chen; P Woolley; C Espiritu; H L Vogel; N Gohle; M Tyrkus
Journal: Clin Genet Date: 1976-05 Impact factor: 4.438

3. Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy.

Authors: H F Willard; S A Latt
Journal: Am J Hum Genet Date: 1976-05 Impact factor: 11.025

4. Trisomy 13 with a 13-X translocation.

Authors: B F Crandall; R E Carrel; J Howard; W A Schroeder; H Müller
Journal: Am J Hum Genet Date: 1974-05 Impact factor: 11.025

5. Trisomy of the short arm of chromosome 17.

Authors: E Latta; J J Hoo
Journal: Humangenetik Date: 1974

6. Abnormal X chromosomes in man: origin, behavior and effects.

Authors: E Therman; K Patau
Journal: Humangenetik Date: 1974

7. Two human X-autosome translocations identified by autoradiography and fluorescence.

Authors: M M Cohen; C C Lin; V Sybert; E J Orecchio
Journal: Am J Hum Genet Date: 1972-09 Impact factor: 11.025

8. Multiple abnormalities due to possible genetic inactivation in an X-autosome translocation.

Authors: T H Thelen; D J Abrams; R O Fisch
Journal: Am J Hum Genet Date: 1971-07 Impact factor: 11.025

9. Simple differential Giemsa staining of sister chromatids after treatment with photosensitive dyes and exposure to light and the mechanism of staining.

Authors: K Goto; T Akematsu; H Shimazu; T Sugiyama
Journal: Chromosoma Date: 1975-12-10 Impact factor: 4.316

10. A possible active segment on the inactive human X chromosome.

Authors: E Therman; G E Sarto; C Distèche; C Denniston
Journal: Chromosoma Date: 1976-12-16 Impact factor: 4.316

12 in total

Review 1. The critical region on the human Xq.

Authors: E Therman; R Laxova; B Susman
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132

2. Familial half cryptic translocation t(9;17).

Authors: A Köhler; J Hain; U Müller
Journal: J Med Genet Date: 1994-09 Impact factor: 6.318

3. X chromosome replication patterns in a case of X;9 balanced translocation.

Authors: G Filippi; V Pecile; N Archidiacono; E Baragino; G Auber; M Rocchi
Journal: J Med Genet Date: 1983-12 Impact factor: 6.318

4. DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I.X-A translocations, rings, fragments, isochromosomes, and pseudo-isodicentrics.

Authors: M Camargo; J Cervenka
Journal: Hum Genet Date: 1984 Impact factor: 4.132

Review 10. Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors: Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal: Hum Genet Date: 2016-04-21 Impact factor: 4.132