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Array CGH defined interstitial deletion on chromosome 14: a new case.
- Source :
- European Journal of Pediatrics; Jul2010, Vol. 169 Issue 7, p845-851, 7p, 2 Black and White Photographs, 1 Diagram, 2 Charts
- Publication Year :
- 2010
-
Abstract
- Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up. [ABSTRACT FROM AUTHOR]
- Subjects :
- CASE studies
COMPARATIVE genomic hybridization
CHROMOSOME abnormalities
FACIAL abnormalities
INTELLECTUAL disabilities
GIRLS
CHROMOSOMES
CYTOGENETICS
PEOPLE with intellectual disabilities
GENETIC mutation
PSYCHOMOTOR disorders
FLUORESCENCE in situ hybridization
OLIGONUCLEOTIDE arrays
MULTIPLE human abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 03406199
- Volume :
- 169
- Issue :
- 7
- Database :
- Complementary Index
- Journal :
- European Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 50870205
- Full Text :
- https://doi.org/10.1007/s00431-009-1128-4