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- Title
Diagnostic Dilemma in Overlapping Congenital Syndromes.
- Authors
SHETH, FRENNY; KAUL, MADHUMITA
- Abstract
The article discusses the difficulty of request for a specific test for many congenital malformations. The case of a 9 1/2 month-old female child diagnosed with 22q11.2 deletion syndrome encompassing DiGeorge syndrome is described. The function of fluorescence in situ hybridization analysis in detecting only targeted anomalies where conventional genetic information can offer information related to the whole genome alterations is noted.
- Subjects
HUMAN abnormalities; DIGEORGE syndrome; FLUORESCENCE; DIAGNOSTIC use of in-situ hybridization; GENOMES
- Publication
Indian Pediatrics, 2013, Vol 50, Issue 1, p157
- ISSN
0019-6061
- Publication type
Article
- DOI
10.1007/s13312-013-0006-3