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Literature DB >> 6655675

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

G Filippi, V Pecile, N Archidiacono, E Baragino, G Auber, M Rocchi.

Abstract

A case of X;9 balanced translocation in a female with amenorrhoea is reported. The X breakpoint was at Xq21, inside the 'critical region'. The normal X was consistently late replicating in blood lymphocytes and skin and ovary fibroblasts.

Entities: Disease

Mesh：

Year: 1983 PMID： 6655675 PMCID： PMC1049186 DOI： 10.1136/jmg.20.6.467

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

11 in total

1. 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

Review 2. X-autosome translocations: a review.

Authors: R L Summitt; R E Tipton; R S Wilroy; P R Martens; J P Phelan
Journal: Birth Defects Orig Artic Ser Date: 1978

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

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

4. Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation.

Authors: B Hellkuhl; A de la Chapelle; K H Grzeschik
Journal: Hum Genet Date: 1982 Impact factor: 4.132

5. t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring.

Authors: N Archidiacono; M Rocchi; U de Vonderweid; G Filippi
Journal: Hum Genet Date: 1978-02-16 Impact factor: 4.132

6. Structural anomalies of the X chromosome and inactivation center.

Authors: M G Mattei; J F Mattei; I Vidal; F Giraud
Journal: Hum Genet Date: 1981 Impact factor: 4.132

7. Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.

Authors: N J Carpenter; B Say; D Browning
Journal: J Med Genet Date: 1980-06 Impact factor: 6.318

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

Authors: C G Palmer; T W Hubbard; G W Henry; D D Weaver
Journal: Am J Hum Genet Date: 1980-03 Impact factor: 11.025

9. Gene action in the X-chromosome of the mouse (Mus musculus L.).

Authors: M F LYON
Journal: Nature Date: 1961-04-22 Impact factor: 49.962

10. Mental retardation in association with a balanced X-autosome translocation and random inactivation of the X chromosomes.

Authors: M E Sands
Journal: Clin Genet Date: 1980-05 Impact factor: 4.438

4 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. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.

Authors: T Ogata; N Matsuo
Journal: Hum Genet Date: 1993-07 Impact factor: 4.132

3. Assignment of the gene for human tenascin to the region q32-q34 of chromosome 9.

Authors: M Rocchi; N Archidiacono; G Romeo; M Saginati; L Zardi
Journal: Hum Genet Date: 1991-04 Impact factor: 4.132

Review 4. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors: T Ogata; N Matsuo
Journal: Hum Genet Date: 1995-06 Impact factor: 4.132

4 in total