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Literature DB >> 903154

A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

J F Mattei, H Taramasco, M G Mattei, C Lucas, L Aubert, F Giraud.

Abstract

A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes, with 5% presenting a 46,X,dic(X) formula. Cytogenetic and clinical problems raised by this observation are discussed in relation to data from the literature.

Entities: Disease Gene Mutation Species

Mesh：

Year: 1977 PMID： 903154 DOI： 10.1007/bf00295806

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

38 in total

Review 1. The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations.

Authors: T C Hsu; S Pathak; T R Chen
Journal: Cytogenet Cell Genet Date: 1975

2. Dicentric X isochromosomes in man.

Authors: R T Howell; S H Roberts; R J Beard
Journal: J Med Genet Date: 1976-12 Impact factor: 6.318

3. A Transmissible Dicentric Chromosome.

Authors: E R Sears; A Câmara
Journal: Genetics Date: 1952-03 Impact factor: 4.562

4. Dicentric human X chromosomes.

Authors: A De la Chapelle; K Stenstrand
Journal: Hereditas Date: 1974 Impact factor: 3.271

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

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

6. Reciprocal translocation versus centric fusion between two No. 13 chromosomes. A case of 46,XX,-13,+t(13;13)(p12;q13) and a case of 46,XY,-13,+t(13;13)(p12;p12).

Authors: L Y Hsu; H J Kim; E Sujansky; B Kousseff; K Hirschhorn
Journal: Cytogenet Cell Genet Date: 1973

7. Evidence for X-X chromosome translocation in humans.

Authors: A K Sinha; J J Nora
Journal: Ann Hum Genet Date: 1969-10 Impact factor: 1.670

8. A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t(6;19).

Authors: P D Pallister; K Patau; S L Inhorn; J M Opitz
Journal: Clin Genet Date: 1974 Impact factor: 4.438

9. A simple method to sequentially reveal Q-and C-bands on the same metaphase chromosomes.

Authors: T R Chen
Journal: Chromosoma Date: 1974 Impact factor: 4.316

10. Isochromosome-X in man. I.

Authors: A De la Chapelle; J Wennström; H Hortling; C H Ockey
Journal: Hereditas Date: 1966 Impact factor: 3.271

9 in total

1. Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome.

Authors: Brian P Chadwick
Journal: Chromosome Res Date: 2019-11-27 Impact factor: 5.239

A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

Review 1. The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations.

2. Dicentric X isochromosomes in man.

3. A Transmissible Dicentric Chromosome.

4. Dicentric human X chromosomes.

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

6. Reciprocal translocation versus centric fusion between two No. 13 chromosomes. A case of 46,XX,-13,+t(13;13)(p12;q13) and a case of 46,XY,-13,+t(13;13)(p12;p12).

7. Evidence for X-X chromosome translocation in humans.

8. A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t(6;19).

9. A simple method to sequentially reveal Q-and C-bands on the same metaphase chromosomes.

10. Isochromosome-X in man. I.

1. Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome.

2. Dicentric Robertsonian translocation in man. 17 cases studied by R,C, and N banding.

3. A girl with an end-to-end fusion of two X'S.

4. 18Q - syndrome resulting from a tdic(14p; 18q).

5. Inactivation centers in the human X chromosome.

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

7. Genetic and cytological characterisation of fusion chromosomes of Dictyostelium discoideum.

8. The Turner phenotype and the different types of human x isochromosome.

9. Three related centromere proteins are absent from the inactive centromere of a stable isodicentric chromosome.