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Literature DB >> 6644769

De novo translocation heterozygote with three reciprocal translocations.

Abstract

An extremely rare case of a child with three balanced reciprocal translocations involving six different autosomes is described. These abnormalities have apparently arisen de novo and seem to have only relatively minor phenotypic effects. The meiotic possibilities are discussed and cytogenetic markers suggest that the damage may have occurred in a paternal gamete.

Entities: Species

Mesh：

Year: 1983 PMID： 6644769 PMCID： PMC1049157 DOI： 10.1136/jmg.20.5.385

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

12 in total

1. Partial trisomy 11,46,XX,-3,-20, + der3, + der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20.

Authors: C G Palmer; C Poland; T Reed; J Kojetin
Journal: Hum Genet Date: 1976-02-29 Impact factor: 4.132

2. Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma.

Authors: P H Fitzgerald; P Miethke; R T Caseley
Journal: Clin Genet Date: 1977-09 Impact factor: 4.438

3. European Society of Human Genetics. Abstracts from symposium on "Chromosome Structure and Function". Vienna, Austria, May 5-7, 1978.

Authors:
Journal: Clin Genet Date: 1978-11 Impact factor: 4.438

4. Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13.

Authors: O Sanchez; J J Yunis; J I Escobar
Journal: Humangenetik Date: 1974-04-24

5. A rare translocation (47,XY,t(2p-;21q+),21+) associated with Down's syndrome.

Authors: J R Miller; F J Dill; M J Corey; J M Rigg
Journal: J Med Genet Date: 1970-12 Impact factor: 6.318

6. A complex chromosomal rearrangement with formation of a ring 4.

Authors: M Bobrow; L F Joness; G Clarke
Journal: J Med Genet Date: 1971-06 Impact factor: 6.318

7. Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence.

Authors: P W Allderdice; O J Miller; D A Miller; W R Breg; E Gendel; C Zelson
Journal: Humangenetik Date: 1971

8. A familial reciprocal translocation between three chromosomes.

Authors: M R Creasy; J A Crolla; M G Daker
Journal: Humangenetik Date: 1974

9. Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome.

Authors: J B Bijlsma; H F de France; L M Bleeker-Wagemakers; P F Dijkstra
Journal: Hum Genet Date: 1978-01-19 Impact factor: 4.132

10. A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.

Authors: D A Couzin; J L Watt; I A Auchterlonie
Journal: J Med Genet Date: 1983-10 Impact factor: 6.318

5 in total

De novo translocation heterozygote with three reciprocal translocations.

1. Partial trisomy 11,46,XX,-3,-20, + der3, + der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20.

2. Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma.

3. European Society of Human Genetics. Abstracts from symposium on "Chromosome Structure and Function". Vienna, Austria, May 5-7, 1978.

4. Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13.

5. A rare translocation (47,XY,t(2p-;21q+),21+) associated with Down's syndrome.

6. A complex chromosomal rearrangement with formation of a ring 4.

7. Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence.

8. A familial reciprocal translocation between three chromosomes.

9. Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome.

10. A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.

Review 1. Are double translocations double trouble?

2. Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement.

3. A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization.

4. Segregation of two independent chromosomal translocations in one family.

5. Complex translocation in habitual abortion.