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Literature DB >> 134161

Reciprocal translocation, 4q-; 21p+, giving rise to Down's syndrome.

Abstract

A reciprocal translocation is described, t(4;21)(q27;p11), which occurs in a balanced carrier mother and her Down's syndrome child, 47,XX,t(4q-;21p+),+21. A review is presented of Down's syndrome associated with reciprocal translations involving chromosome No. 21.

Entities: Disease Gene Species

Mesh：

Year: 1976 PMID： 134161 PMCID： PMC1013425 DOI： 10.1136/jmg.13.4.323

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

19 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. A CHROMOSOMAL ABNORMALITY IN A MYELOCYTIC ALEUKAEMIC LEUKAEMIA.

Authors: S MAKINO; M S SASAKI
Journal: Lancet Date: 1964-04-18 Impact factor: 79.321

3. FAMILIAL DOWN'S SYNDROME WITH UNDETECTED TRANSLOCATION.

Authors: R W DAY; C P MILES
Journal: J Pediatr Date: 1965-09 Impact factor: 4.406

4. 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

5. [Reciprocal translocation between a chromosome number 21 (G1) and a chromosome of the group C(C6)].

Authors: R A Pfeiffer; J Laermann; H L Heidtmann
Journal: Helv Paediatr Acta Date: 1967-12

6. [Translocation t(2q-; 21q+) in three generations].

Authors: C Laurent; J M Robert
Journal: Ann Genet Date: 1968-03

7. Maternal transmission of a 21/1 translocation associated with Down's syndrome.

Authors: S B Kontras; G J Currier; R F Cooper; J P Ambuel
Journal: J Pediatr Date: 1966-10 Impact factor: 4.406

8. 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

Reciprocal translocation, 4q-; 21p+, giving rise to Down's syndrome.

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

2. A CHROMOSOMAL ABNORMALITY IN A MYELOCYTIC ALEUKAEMIC LEUKAEMIA.

3. FAMILIAL DOWN'S SYNDROME WITH UNDETECTED TRANSLOCATION.

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

5. [Reciprocal translocation between a chromosome number 21 (G1) and a chromosome of the group C(C6)].

6. [Translocation t(2q-; 21q+) in three generations].

7. Maternal transmission of a 21/1 translocation associated with Down's syndrome.

8. 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.

9. Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.

10. A simple technique for demonstrating centromeric heterochromatin.

Review 1. Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

2. Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

3. The use of mouse models for understanding the biology of down syndrome and aging.