Please wait, while we are loading the content...
Please wait, while we are loading the content...
| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Zhou, Yi Sun, Yunxia Xie, Yingjun Chen, Yongzhen Chen, Baojiang Wu, Jianzhu |
| Description | Author Affiliation: Xie Y ( Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yatsen University, Guangzhou, Guangdong 510080, P.R. China.); Zhou Y ( Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yatsen University, Guangzhou, Guangdong 510080, P.R. China.); Wu J ( Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yatsen University, Guangzhou, Guangdong 510080, P.R. China.); Sun Y ( Department of Neonatology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong 510080, P.R. China.); Chen Y ( Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yatsen University, Guangzhou, Guangdong 510080, P.R. China.); Chen B ( Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yatsen University, Guangzhou, Guangdong 510080, P.R. China.) |
| Abstract | It has been well established that the 5p deletion causes Cri du chat syndrome, typically characterized by a catlike cry, and that duplication of 18q causes Edwards syndrome; the two are rare genetic abnormalities that separately lead to physical and mental impairments. However, the severity of the clinicopathological characteristics that arise when these two aberrations occur in one patient is unknown. Here, the first case in our knowledge of a single patient (a twoyearold female) with 5p partial monosomy and 18q partial trisomy is described. In the present study, chromosome microarray analysis was performed, which identified the imbalance of chromosomes 5 and 18 in the patient. The chromosome aberrations were further confirmed by fluorescence in situ hybridization. By comparing the phenotypes of combined case with those of the individual syndromes, severe clinical phenotypes of the 5p (5p15.33p13.3) deletion were confirmed, however, the net effect of the duplication of 18q22.3q23 was not determined, as this duplication only appeared to have a weak effect on the patient's phenotypes. The correlation between these chromosomal aberrations and their clinical features has implications for the identification of critical regions of 5p and 18q, particularly for the functional mapping of chromosome 18. |
| ISSN | 17912997 |
| e-ISSN | 17913004 |
| Journal | Molecular Medicine Reports |
| Issue Number | 3 |
| Volume Number | 11 |
| Language | English |
| Publisher | Spandidos Publications |
| Publisher Date | 2015-03-01 |
| Publisher Place | Greece |
| Access Restriction | Open |
| Subject Keyword | Cri-du-chat Syndrome Diagnosis Genetics Trisomy Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 18 In Situ Hybridization, Fluorescence Oligonucleotide Array Sequence Analysis Phenotype Syndrome Discipline Molecular Biology |
| Content Type | Text |
| Resource Type | Article Case study |
| Subject | Genetics Biochemistry Molecular Biology Cancer Research Molecular Medicine Oncology |
National Digital Library of India (NDLI) is a virtual repository of learning resources which is not just a repository with search/browse facilities but provides a host of services for the learner community. It is sponsored and mentored by Ministry of Education, Government of India, through its National Mission on Education through Information and Communication Technology (NMEICT). Filtered and federated searching is employed to facilitate focused searching so that learners can find the right resource with least effort and in minimum time. NDLI provides user group-specific services such as Examination Preparatory for School and College students and job aspirants. Services for Researchers and general learners are also provided. NDLI is designed to hold content of any language and provides interface support for 10 most widely used Indian languages. It is built to provide support for all academic levels including researchers and life-long learners, all disciplines, all popular forms of access devices and differently-abled learners. It is designed to enable people to learn and prepare from best practices from all over the world and to facilitate researchers to perform inter-linked exploration from multiple sources. It is developed, operated and maintained from Indian Institute of Technology Kharagpur.
Learn more about this project from here.
NDLI is a conglomeration of freely available or institutionally contributed or donated or publisher managed contents. Almost all these contents are hosted and accessed from respective sources. The responsibility for authenticity, relevance, completeness, accuracy, reliability and suitability of these contents rests with the respective organization and NDLI has no responsibility or liability for these. Every effort is made to keep the NDLI portal up and running smoothly unless there are some unavoidable technical issues.
Ministry of Education, through its National Mission on Education through Information and Communication Technology (NMEICT), has sponsored and funded the National Digital Library of India (NDLI) project.
| Sl. | Authority | Responsibilities | Communication Details |
|---|---|---|---|
| 1 | Ministry of Education (GoI), Department of Higher Education |
Sanctioning Authority | https://www.education.gov.in/ict-initiatives |
| 2 | Indian Institute of Technology Kharagpur | Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project | https://www.iitkgp.ac.in |
| 3 | National Digital Library of India Office, Indian Institute of Technology Kharagpur | The administrative and infrastructural headquarters of the project | Dr. B. Sutradhar bsutra@ndl.gov.in |
| 4 | Project PI / Joint PI | Principal Investigator and Joint Principal Investigators of the project |
Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon |
| 5 | Website/Portal (Helpdesk) | Queries regarding NDLI and its services | support@ndl.gov.in |
| 6 | Contents and Copyright Issues | Queries related to content curation and copyright issues | content@ndl.gov.in |
| 7 | National Digital Library of India Club (NDLI Club) | Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach | clubsupport@ndl.gov.in |
| 8 | Digital Preservation Centre (DPC) | Assistance with digitizing and archiving copyright-free printed books | dpc@ndl.gov.in |
| 9 | IDR Setup or Support | Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops | idr@ndl.gov.in |
|
Loading...
|