Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality
| Autor: | Maria Valeria Migliori, E. Bartolotta, Valentino Cherubini, Rolando Pecora, Antonella Pettinari |
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| Rok vydání: | 1994 |
| Předmět: |
medicine.medical_specialty
Clinodactyly Ring chromosome Chromosome Disorders Biology Ring (chemistry) Short stature Growth hormone deficiency Internal medicine Intellectual Disability medicine Humans Abnormalities Multiple Ring Chromosomes Dwarfism Pituitary Genetics (clinical) Chromosome Aberrations Growth retardation Chromosome medicine.disease Endocrinology Child Preschool Face Growth Hormone Chromosomes Human Pair 5 Female medicine.symptom Abnormality |
| Zdroj: | American journal of medical genetics. 49(1) |
| ISSN: | 0148-7299 |
| Popis: | The authors report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either the short or long arm of chromosome 5 as a consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. 12 refs., 3 figs. |
| Databáze: | OpenAIRE |
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