| dc.contributor.author |
Deeb, Mary |
|
| dc.contributor.author |
Dudin, Gertrud |
|
| dc.contributor.author |
Alexander, Denis |
|
| dc.contributor.author |
Talj, Fayrouz |
|
| dc.contributor.author |
Musallam, Salim |
|
| dc.contributor.author |
Der Kaloustian, Vazken M. |
|
| dc.date.accessioned |
2016-11-23T13:36:09Z |
|
| dc.date.available |
2016-11-23T13:36:09Z |
|
| dc.date.copyright |
1984 |
en_US |
| dc.date.issued |
2016-11-23 |
|
| dc.identifier.issn |
0009-9163 |
en_US |
| dc.identifier.uri |
http://hdl.handle.net/10725/4843 |
|
| dc.description.abstract |
A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their karyotypes were normal.
The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12 |
en_US |
| dc.language.iso |
en |
en_US |
| dc.title |
Interstitial deletion of band q12 of chromosome 5 |
en_US |
| dc.type |
Article |
en_US |
| dc.description.version |
Published |
en_US |
| dc.author.school |
SOM |
en_US |
| dc.author.idnumber |
200900035 |
en_US |
| dc.author.department |
N/A |
en_US |
| dc.description.embargo |
N/A |
en_US |
| dc.relation.journal |
Clinical Genetics: an international journal of genetics and molecular medicine |
en_US |
| dc.journal.volume |
25 |
en_US |
| dc.journal.issue |
5 |
en_US |
| dc.article.pages |
455-458 |
en_US |
| dc.keywords |
Arylsulphatase B |
en_US |
| dc.keywords |
Hexosaminidase B |
en_US |
| dc.keywords |
Mental retardation |
en_US |
| dc.keywords |
Multiple congenital malformations |
en_US |
| dc.keywords |
Partial monosomy 5q |
en_US |
| dc.identifier.doi |
http://dx.doi.org/10.1111/j.1399-0004.1984.tb02016.x |
en_US |
| dc.identifier.ctation |
Dudin, G., Alexander, D., Talj, F., Deeb, M., Musallam, S., & Kaloustian, V. M. D. (1984). Interstitial deletion of band q12 of chromosome 5. Clinical genetics, 25(5), 455-458. |
en_US |
| dc.author.email |
mary.deeb@lau.edu.lb |
en_US |
| dc.identifier.tou |
http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php |
en_US |
| dc.identifier.url |
http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.1984.tb02016.x/abstract |
en_US |
| dc.author.affiliation |
Lebanese American University |
en_US |