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Literature DB >> 7390483

Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families.

Abstract

Two reciprocal balanced translocations 46,XY,t(9;13)(p23;q21) and 46,XX,t(13;21)(q21;q21), identified by RFA-and GTG-banding, are presented along with a complete study of both families. In the second case a 3 : 1 segregation is associated with an unbalanced 2 : 2 segregation, as demonstrated in the two surviving sons: one with interchange trisomy 21 and the other with partial trisomy 13 and partial monosomy 21. This suggests that the presence of this translocation, and possibly of other translocations involving morphologically similar chromosomes, could signify a high risk of having chromosomal disorders in offspring.

Entities: Disease

Mesh：

Year: 1980 PMID： 7390483 DOI： 10.1007/bf00279042

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

15 in total

1. Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Authors: R H Lindenbaum; M Bobrow
Journal: J Med Genet Date: 1975-03 Impact factor: 6.318

2. Familial translocation t(3p-;21q+) associated with both Down's and Sturge-Weber's syndrome in unbalanced state.

Authors: M Habedank; G Kampe
Journal: Humangenetik Date: 1975-09-23

3. Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors: P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal: Exp Cell Res Date: 1960-09 Impact factor: 3.905

4. Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

Authors: A Schinzel; K Hayashi; W Schmid
Journal: Hum Genet Date: 1976-04-15 Impact factor: 4.132

5. A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21).

Authors: M Jotterand; E Juillard
Journal: Hum Genet Date: 1976-08-30 Impact factor: 4.132

6. Familial C-G translocation causing mitotic nondisjunction. A cause of familial mosaic Down's syndrome.

Authors: L Weiss; C B Wolf
Journal: Am J Dis Child Date: 1968-12

7. Identification of a C6-G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus.

Authors: D S Borgaonkar; W B Bias; G A Chase; G Sadasivan; H M Herr; H M Golomb; G F Bahr; L M Kunkel
Journal: Clin Genet Date: 1973 Impact factor: 4.438

8. Rare translocation 47,XY,t(12;21) in Down's syndrome.

Authors: M Mikkelsen
Journal: Hum Hered Date: 1974 Impact factor: 0.444

9. Identification of a familial 19-21 translocation by Q and G band patterns.

Authors: W Vogel; B Löning
Journal: Humangenetik Date: 1973-05-25

10. [X-chromosome translocations. Examination based on treatment with BUDR and staining with acridine orange].

Authors: B Dutrillaux; C Laurent; S Gilgenkrantz; J Frédéric; S Carpentier; J Couturier; J Lejeune
Journal: Helv Paediatr Acta Date: 1974

9 in total

1. Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes.

Authors: Sulman Basit; Syed Kamran-ul-Hassan Naqvi; Muhammad Ansar; Wasim Ahmad
Journal: Hum Genet Date: 2011-08-30 Impact factor: 4.132

Review 2. Eleven new cases of del(9p) and features from 80 cases.

Authors: J L Huret; C Leonard; B Forestier; M O Rethoré; J Lejeune
Journal: J Med Genet Date: 1988-11 Impact factor: 6.318

3. Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.

Authors: R Valero; G Marfany; R Gil-Benso; M A Ibáñez; I López-Pajares; F Prieto; G Rullan; E Sarret; R Gonzàlez-Duarte
Journal: J Med Genet Date: 1999-09 Impact factor: 6.318

4. Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors: S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal: J Med Genet Date: 1986-08 Impact factor: 6.318

Review 5. Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations.

Authors: O Cohen; C Cans; M A Mermet; J Demongeot; P Jalbert
Journal: Hum Genet Date: 1994-02 Impact factor: 4.132

Review 9. Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature.

Authors: D P Duckett; S H Roberts
Journal: Hum Genet Date: 1981 Impact factor: 4.132