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 A case of (13q;18q) translocation with proximal 13q monosomy.

Literature DB >> 914281

A case of (13q;18q) translocation with proximal 13q monosomy.

Y Suzuki, K Ono, S Oka, T Matsubara, M Arima, Y Nakagome.

Abstract

A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.

Entities: Chemical Disease Gene

Mesh：

Year: 1977 PMID： 914281 DOI： 10.1007/bf00402161

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

4 in total

1. De novo (11;13) translocation.

Authors: C Fonatsch; S D Flatz
Journal: Humangenetik Date: 1975-06-19

2. Clinical and chromosomal studies of the 18q- syndrome.

Authors: W Wertelecki; P S Gerald
Journal: J Pediatr Date: 1971-01 Impact factor: 4.406

3. Partial monosomy 13 as the result of a balanced translocation 3/13 pat.

Authors: G Schwanitz; M Reither; G Grosse; C Hägele; U Gutfried
Journal: Humangenetik Date: 1975-06-19

4. Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors: B Noel; B Quack; M O Rethore
Journal: Clin Genet Date: 1976-06 Impact factor: 4.438

4 in total

5 in total

1. Is G banding sufficient for the localization of breakpoints in translocations? A comment on the paper: A case of (13q;18q) translocation with proximal 13q monosomy. By Y.Suzuki, K. Ono, S. Oka, T. Matsubara, M. Arima, and Y. Nakagome. Hum. Genet. 38, 337-341 (1977).

Authors: F Prieto; L Badia; F Asensi
Journal: Hum Genet Date: 1979-04-05 Impact factor: 4.132

A case of (13q;18q) translocation with proximal 13q monosomy.

1. De novo (11;13) translocation.

2. Clinical and chromosomal studies of the 18q- syndrome.

3. Partial monosomy 13 as the result of a balanced translocation 3/13 pat.

4. Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

1. Is G banding sufficient for the localization of breakpoints in translocations? A comment on the paper: A case of (13q;18q) translocation with proximal 13q monosomy. By Y.Suzuki, K. Ono, S. Oka, T. Matsubara, M. Arima, and Y. Nakagome. Hum. Genet. 38, 337-341 (1977).

2. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.

3. Retinoblastoma and partial deletion of the long arm of chromosome 13.

4. Reply to the letter of Prieto et al. concerning our paper on a case of 13q;18q translocation.

5. Unbalanced 13;18 translocation and Williams syndrome.