Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Unbalanced 13q/21q translocation: a revised study of the case previously reported as 21-monosomy.

Literature DB >> 964993

Unbalanced 13q/21q translocation: a revised study of the case previously reported as 21-monosomy.

T Ikeuchi, I Kondo, M Sasaki, Y Kaneko, S Kodama.

Abstract

Reexamination was made on a male infant previously reported as 21-monosomy. Extensive chromosome banding analyses in the patient and parents disclosed an unbalanced de novo translocation between chromosomes 13 and 21. The patient's karyotype was interpreted as 45,XY,--13,--21+der(13),t(13;21) (q2 or 3;q1 or 2)pat. The patient showed many clinical features characteristic of 13q--syndrome.

Entities: Species

Mesh：

Year: 1976 PMID： 964993 DOI： 10.1007/BF00286861

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

5 in total

1. A male infant with monosomy 21.

Authors: Y Kaneko; T Ikeuchi; M Sasaki; Y Stakae; S Kuwajima
Journal: Humangenetik Date: 1975-08-29

2. Letter: Does full monosomy 21 exist? A comment to the paper: A male infant with monosomy 21 by Y. Kaneko, T. Ikeuchi, M. Sasaki, Y. Satake and S. Kuwajima Humangenetik 29, 1-7 (1975).

Authors: A Schinzel
Journal: Hum Genet Date: 1976-04-15 Impact factor: 4.132

3. Ring chromosome D (13) associated with multiple congenital malformations.

Authors: E Niebuhr; J Ottosen
Journal: Ann Genet Date: 1973-09

4. [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].

Authors: B Dutrillaux; C Laurent; J Couturier; J Lejeune
Journal: C R Acad Hebd Seances Acad Sci D Date: 1973-06-13

5. The G deletion syndromes.

Authors: R J Warren; D L Rimoin
Journal: J Pediatr Date: 1970-10 Impact factor: 4.406

5 in total

6 in total

Unbalanced 13q/21q translocation: a revised study of the case previously reported as 21-monosomy.

1. A male infant with monosomy 21.

2. Letter: Does full monosomy 21 exist? A comment to the paper: A male infant with monosomy 21 by Y. Kaneko, T. Ikeuchi, M. Sasaki, Y. Satake and S. Kuwajima Humangenetik 29, 1-7 (1975).

3. Ring chromosome D (13) associated with multiple congenital malformations.

4. [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].

5. The G deletion syndromes.

1. Small structural changes of chromosome 8. Two cases with evidence for deletion.

2. Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

3. Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

4. 21-Monosomy in a liveborn male infant.

5. Parental origin of de novo chromosome rearrangements.

6. Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.