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Literature DB >> 152355

Dissociation as probable origin of mosaic 45,XY,t(15;21)/46,XY,i(21q).

Abstract

A patient is described with some features of Down's syndrome and a 45,XY, t(15;21)(15qter leads to 15p13::21p11 leads to 21qter)/46,XY,i(21)(qter leads to cen leads to qter) karyotype. Two mechanisms are proposed for the origin of the mosaicism, one assuming the dissociation of a translocation (15;21) chromosome already present in the zygote, and the other involving a chromatid translocation in a 46,XY zygote. The possible independent origin of the two cell lines is also considered.

Entities: Disease Gene Species

Mesh：

Year: 1978 PMID： 152355 PMCID： PMC1013705 DOI： 10.1136/jmg.15.4.305

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

11 in total

1. The use of dermal configurations in the diagnosis of mongolism.

Authors: N F WALKER
Journal: J Pediatr Date: 1957-01 Impact factor: 4.406

2. A Transmissible Dicentric Chromosome.

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

3. A simple technique for demonstrating centromeric heterochromatin.

Authors: A T Sumner
Journal: Exp Cell Res Date: 1972-11 Impact factor: 3.905

4. A rapid banding technique for human chromosomes.

Authors: M Seabright
Journal: Lancet Date: 1971-10-30 Impact factor: 79.321

5. A cytogenetic survey of 11,680 newborn infants.

Authors: P A Jacobs; M Melville; S Ratcliffe; A J Keay; J Syme
Journal: Ann Hum Genet Date: 1974-05 Impact factor: 1.670

6. Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21, + t(15q21q) and 46,XX,-21, + t(21q21q).

Authors: L Atkins; C S Bartsocas
Journal: J Med Genet Date: 1974-09 Impact factor: 6.318

7. A 45,XX,5-,13-,dic+ karyotype in a case of cri-du-chat syndrome.

Authors: E Niebuhr
Journal: Cytogenetics Date: 1972

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

6. Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations.

Authors: S L Page; L G Shaffer
Journal: Chromosome Res Date: 1998-02 Impact factor: 5.239

Review 7. An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.

Authors: M J Clarke; D A Thomson; M J Griffiths; J G Bissenden; A Aukett; J L Watt
Journal: J Med Genet Date: 1989-03 Impact factor: 6.318

7 in total

Dissociation as probable origin of mosaic 45,XY,t(15;21)/46,XY,i(21q).

1. The use of dermal configurations in the diagnosis of mongolism.

2. A Transmissible Dicentric Chromosome.

3. A simple technique for demonstrating centromeric heterochromatin.

4. A rapid banding technique for human chromosomes.

5. A cytogenetic survey of 11,680 newborn infants.

6. Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21, + t(15q21q) and 46,XX,-21, + t(21q21q).

7. A 45,XX,5-,13-,dic+ karyotype in a case of cri-du-chat syndrome.

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

9. The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.

10. Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining.

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

2. A somatic origin of homologous Robertsonian translocations and isochromosomes.

3. Dissociation of a t(12;21) resulting in a normal cell line in two trisomic 21 sons of a nonmosaic t(12;21) father?

4. Unstable familial translocations: A t(11;22)mat inherited as a t(11;15).

5. Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.

6. Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations.

Review 7. An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.