Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?
| Autor: | J M Hoovers, Raoul C.M. Hennekam, S M Maas, M E van Seggelen, D M Menzel |
|---|---|
| Přispěvatelé: | Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 2000 |
| Předmět: |
Male
Pathology medicine.medical_specialty Long arm Pathology and Forensic Medicine Humans Medicine Abnormalities Multiple Digital anomalies Genetics (clinical) business.industry Chromosome Fragility Breakpoint Infant Newborn Chromosome Karyotype Syndrome General Medicine Microdeletion syndrome Malformed ears Chromosomes Human Pair 2 Karyotyping Pediatrics Perinatology and Child Health Chromosome Deletion Anatomy business |
| Zdroj: | Clinical dysmorphology, 9(1), 47-53. Lippincott Williams and Wilkins |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/00019605-200009010-00010 |
| Popis: | We report on a boy with an interstitial deletion of the long arm of chromosome 2 with breakpoints in chromosome bands q23 and q24.3. Main features were low-set and malformed ears, digital anomalies and congenital heart defects, which have also been reported in most of the previously described cases. A comparison of the features of the present patient with those in previously reported cases suggests the deletion 2q23q24 to be a clinically recognizable syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|