dc.contributor.author |
Bağış, Haydar |
|
dc.contributor.author |
Öztürk, Özden |
|
dc.contributor.author |
Bolu, Semih |
|
dc.contributor.author |
Taşkın, Bayram |
|
dc.date.accessioned |
2025-08-11T07:37:06Z |
|
dc.date.available |
2025-08-11T07:37:06Z |
|
dc.date.issued |
2020 |
|
dc.identifier.issn |
2146-4596 |
|
dc.identifier.uri |
http://dspace.adiyaman.edu.tr:8080/xmlui/handle/20.500.12414/6590 |
|
dc.description.abstract |
The Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due tomutations in one of the following genes: NIPBL, SMC1A, SMC3, RAD21, and HDAC8. On the other hand, 10q11.2 deletions cause a wide range of presentations in patients. Approximately 40 cases with variable deletions of 10q11.2 have been reported in literature. Some of the reported cases involve the coexistence of duplication or deletion affecting one copy of the chromosome. However, deletion of chromosome 10q11.22-q11.23 and CdLS syndrome caused by NIPBL gene mutations have not been reported previously. This report, therefore, is the first to report their coexistence together. |
tr |
dc.language.iso |
en |
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dc.publisher |
GEORG THIEME VERLAG KG |
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dc.subject |
the Cornelia de Lange syndrome |
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dc.subject |
NIPBLgene |
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dc.subject |
10q11 |
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dc.subject |
2 micro deletion |
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dc.title |
A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual |
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dc.type |
Article |
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dc.contributor.authorID |
0000-0002-1140-8058 |
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dc.contributor.authorID |
0000-0001-8558-7901 |
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dc.contributor.department |
Adiyaman Univ, Med Sch, Dept Med Genet |
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dc.contributor.department |
Adiyaman Univ, Med Sch, Dept Pediat, Div Pediat Endocrinol |
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dc.contributor.department |
Haseki Educ & Res Hosp, Dept Med Genet |
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dc.identifier.endpage |
252 |
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dc.identifier.issue |
3 |
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dc.identifier.startpage |
245 |
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dc.identifier.volume |
11 |
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dc.source.title |
JOURNAL OF PEDIATRIC GENETICS |
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