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Literature DB >> 6512835

A complex three way translocation resulting in two sibs with partial trisomy 3p23----3pter.

R Voss, E Gross-Kieselstein, H Hurvitz, J Dagan, E Kerem, J Zlotogora.

Abstract

A male infant with multiple congenital anomalies and psychomotor retardation was found to have a translocation resulting in partial trisomy for the distal part of chromosome 3p. An older sister with similar clinical findings had an identical karyotype. Chromosome studies in the phenotypically normal parents revealed a balanced translocation in the mother involving chromosomes 3, 11, and 18. An identical translocation was found in one of the normal children.

Entities: Disease Species

Mesh：

Year: 1984 PMID： 6512835 PMCID： PMC1049347 DOI： 10.1136/jmg.21.6.454

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

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References

18 in total

1. Familial translocation (3p 15p) with partial trisomy for the upper arm of chromosome 3 in two sibs.

Authors: B Say; N Barber; M Bobrow; K Jones; J G Coldwell
Journal: J Pediatr Date: 1976-03 Impact factor: 4.406

2. [Partial trisomy for the distal part of the short branch of chromosome 3].

Authors: F Ballesta; L Vehi
Journal: Ann Genet Date: 1974-12

3. An unusual chromosomal segregation in a family with a translocation between chromosomes 3 and 12.

Authors: S Sachdeva; G F Smith; P Justice
Journal: J Med Genet Date: 1974-09 Impact factor: 6.318

4. Rapid processing of primary embryonic tissues for chromosome banding pattern analysis.

Authors: H P Klinger
Journal: Cytogenetics Date: 1972

5. [Trisomy for the distal part of the short arm of the number 3 chromosome in 3 siblings. First example of chromosomal insertion: INS(7;3)(q 31;p 21 p 26)].

Authors: M O Rethoré; J Lejeune; S Carpentier; M Prieur; B Dutrillaux; P Seringe; A Rossier; J C Job
Journal: Ann Genet Date: 1972-09

A complex three way translocation resulting in two sibs with partial trisomy 3p23----3pter.

1. Familial translocation (3p 15p) with partial trisomy for the upper arm of chromosome 3 in two sibs.

2. [Partial trisomy for the distal part of the short branch of chromosome 3].

3. An unusual chromosomal segregation in a family with a translocation between chromosomes 3 and 12.

4. Rapid processing of primary embryonic tissues for chromosome banding pattern analysis.

5. [Trisomy for the distal part of the short arm of the number 3 chromosome in 3 siblings. First example of chromosomal insertion: INS(7;3)(q 31;p 21 p 26)].

6. A new translocation syndrome (3/B).

7. A family showing transmission of a translocation t(3porq-;Cq+).

8. 46, XY, t(3;22) (p2;q13) resulting in partial trisomy for the short arm of chromosome 3.

9. Partial trisomy 3p in two siblings: clinical and pathological findings.

10. Trisomy for the distal end of the short arm of chromosome 3: a syndrome.