| Implementation of Fluorescent in situ hybridization (FISH) as a method for detecting microdeletion syndromes - our first experiences. | |
| | |
MedLine Citation:
|
PMID: 18356781 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Fluorescent in situ hybridisation (FISH) is a complementary cytogenetic method which has an important role in discovering unsolved cases of mental retardation and multiple anomalies. The ability of this method to detect complex and cryptic chromosomal rearrangements exceeds the resolution of the usual cytogenetic banding techniques; therefore it has a wide implementation in modern cytogenetic laboratories - in routine work, as well as for research purposes. We analysed 19 patients with microdeletion syndromes - 9 patients with Williams syndrome, 4 patients with Prader-Willi syndrome, and 6 patients with DiGeorge syndrome. On the basis of evaluation of facial dysmorphism and the presence of specific major anomalies, all the patients met the criteria for the diagnosis of the syndrome. FISH studies were performed, confirming the suspected syndrome in patients. |
| | |
Authors:
|
E Sukarova-Angelovska; K Piperkova; A Sredovska; G Ilieva; M Kocova |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Prilozi / Makedonska akademija na naukite i umetnostite, Oddelenie za biološki i medicinski nauki = Contributions / Macedonian Academy of Sciences and Arts, Section of Biological and Medical Sciences Volume: 28 ISSN: 0351-3254 ISO Abbreviation: Prilozi Publication Date: 2007 Dec |
Date Detail:
|
Created Date: 2008-03-21 Completed Date: 2008-08-29 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101189513 Medline TA: Prilozi Country: Macedonia |
Other Details:
|
Languages: eng Pagination: 87-98 Citation Subset: IM |
Affiliation:
|
Endocrinology and Genetics Department, Neonatology Department, Cytogenetic Laboratory, Pediatric Clinic, Medical Faculty, Skopje, R. Macedonia. ESukarova@doctor.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Chromosome Deletion* DiGeorge Syndrome / diagnosis*, genetics Female Humans In Situ Hybridization, Fluorescence* Male Prader-Willi Syndrome / diagnosis*, genetics Williams Syndrome / diagnosis*, genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Evaluation of telomerase activity in patients with chronic B lymphocytic leukemia versus age matched...
Next Document: Survival of patients on maintenance haemodialysis over a twenty-year period.