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Literature DB >> 12029462

A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation.

Atsushi Uchiyama¹, Noriyuki Haneda, Kyoko Saito, Satomi Miyamoto, Yuichi Takusa, Rie Kanai, Masahiko Kimura, Hitoshi Sejima, Seiji Yamaguchi.

Abstract

A girl with partial trisomy 5q35qter and partial trisomy 13pterq31 shows a less severe clinical course.

Entities: Species

Mesh：

Year: 2002 PMID： 12029462 DOI： 10.1007/s00431-002-0946-4

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

6 in total

1. Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.

Authors: M Rodríguez de Alba; R Sanz; I Lorda-Sanchez; J M Fernández-Moya; C Ayuso; J Díaz-Recasens; C Ramos
Journal: Prenat Diagn Date: 1999-09 Impact factor: 3.050

2. Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation.

Authors: M Masuno; Y Cholsong; T Kuwahara; N Shimizu; S Yamaguchi; I Kawabata; T Tamaya; Y Morishita; N Yoshimi; T Orii
Journal: Am J Med Genet Date: 1991-10-01

3. Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome.

Authors: C J Curry; W D Loughman; U Francke; B D Hall; M S Golbus; J Derstine; C J Epstein
Journal: Clin Genet Date: 1979-05 Impact factor: 4.438

1 in total

1. Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis.

Authors: Ruth Mikelsaar; Mari Nelis; Ants Kurg; Olga Zilina; Paul Korrovits; Ranno Rätsep; Maie Väli
Journal: J Appl Genet Date: 2011-11-29 Impact factor: 3.240

1 in total

A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation.

1. Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.

2. Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation.

3. Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome.

4. Clinical delineation of proximal and distal partial 13q trisomy.

5. Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation.

6. Partial trisomy 5q: three different phenotypes depending on different duplication segments.

1. Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis.