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Literature DB >> 422207

Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11).

Abstract

A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX, - 13,+t(13;13)(p11;q11)/46,XX,del(13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the translocation chromosome.

Entities: Disease Gene Species

Mesh：

Year: 1979 PMID： 422207 DOI： 10.1007/bf00291927

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

8 in total

1. Structure and inheritance of some heterozygous Robertsonian translocation in man.

Authors: A Daniel; P R Lam-Po-Tang
Journal: J Med Genet Date: 1976-10 Impact factor: 6.318

2. Cleft lip and cleft palate in D trisomy.

Authors: H T Loevy; E Krmpotic; I M Rosenthal
Journal: Cleft Palate J Date: 1975-01

3. Trisomy 13 mosaic presenting as cleft lip and palate.

Authors: S Beer; K Fried; H I Krespin; M Rosenblatt; M Tieder
Journal: Hum Hered Date: 1976 Impact factor: 0.444

4. [Mosaic trisomy 13 with isochromosome: 46, XX-46, XX, 13-, 13 q:].

Authors: J M Emberger; C Nègre; R Lafon
Journal: Ann Genet Date: 1972-06

5. 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

6. Trisomy D1 syndrome with DqDq tandem translocation.

Authors: Y C Chen; C Espiritu; P V Woolley
Journal: Am J Dis Child Date: 1971-12

7. Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival.

Authors: R E Magenis; F Hecht; S Milham
Journal: J Pediatr Date: 1968-08 Impact factor: 4.406

8. Induced Robertsonian fusions and tandem translocations in mammalian cell cultures.

Authors: T C Hsu; S Pathak; B M Basen; G J Stark
Journal: Cytogenet Cell Genet Date: 1978

8 in total

9 in total

Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11).

1. Structure and inheritance of some heterozygous Robertsonian translocation in man.

2. Cleft lip and cleft palate in D trisomy.

3. Trisomy 13 mosaic presenting as cleft lip and palate.

4. [Mosaic trisomy 13 with isochromosome: 46, XX-46, XX, 13-, 13 q:].

5. 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).

6. Trisomy D1 syndrome with DqDq tandem translocation.

7. Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival.

8. Induced Robertsonian fusions and tandem translocations in mammalian cell cultures.

Review 1. Centric fission--simple and complex mechanisms.

2. Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

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

4. Trisomy 13 in a 4-year-old child.

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

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

7. Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism.

8. The origin of telocentric chromosomes in man: a girl with tel(Xq).

9. Balanced transmission of centromeric fission products in man.