A clinical report and further delineation of the 14q32 deletion syndrome
| Autor: | Jessica A. Hellings, Erin L. Youngs, Merlin G. Butler |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Pathology
medicine.medical_specialty Prominent forehead Ring chromosome Article Pathology and Forensic Medicine Clinical report Medicine Humans Deletion syndrome Genetics (clinical) Chromosomes Human Pair 14 business.industry Chromosome Infant Cognition General Medicine Syndrome Phenotype Hypotonia Pediatrics Perinatology and Child Health Female Anatomy medicine.symptom Chromosome Deletion business |
| Zdroj: | Clin Dysmorphol |
| ISSN: | 1473-5717 |
| Popis: | Deletions of the chromosome 14q32 region are rare but common clinical features indicate the presence of a cytogenetic syndrome. This condition is characterized by developmental delay, hypotonia, and a particular face (broad and flat nasal bridge, broad philtrum, thin upper lip, and prominent forehead). Further delineation of this syndrome is needed to clarify cognitive, physical, and behavioral aspects. A ring chromosome 14 defect produces a similar phenotype but often results in seizures, visual problems, and retinal abnormalities, and will not be discussed further in this report. We report our experience in examining the clinical, cognitive, and behavioral findings in an 18.5-year-old female studied with chromosomal microarray hybridization and reviewed earlier reported patients with 14q32 deletions. |
| Databáze: | OpenAIRE |
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