Trisomy 8 mosaicism
| Autor: | György Kosztolányi, P. Elmiger, E. M. Bühler, G. Stalder |
|---|---|
| Rok vydání: | 1976 |
| Předmět: |
Male
medicine.medical_specialty Clinodactyly Adolescent Prominent forehead Trisomy Growth Trisomy 8 Dysmorphic ears Intellectual Disability Birth Weight Humans Medicine Abnormalities Multiple Radiology Nuclear Medicine and imaging Lymphocytes Agenesis of the corpus callosum Strabismus Cells Cultured Chromosomes Human 6-12 and X Mosaicism business.industry Skull Cytogenetics General Medicine Anatomy Fibroblasts medicine.disease Radiography Pediatrics Perinatology and Child Health medicine.symptom Narrow pelvis business |
| Zdroj: | European Journal of Pediatrics. 123:293-300 |
| ISSN: | 1432-1076 0340-6997 |
| DOI: | 10.1007/bf00444650 |
| Popis: | A 16-year-old boy with trisomy 8 mosaicism is presented. Increased birth weight, delayed psychomotoric and accelerated somatic development, and mental retardation were noted; he exhibited a prominent forehead, a broad-bridged upturned nose, an everted lower lip, low set dysmorphic ears, strabismus, slender trunk, narrow pelvis, osseous and joint anomalies, clinodactyly, deep skin furrows on the soles, and agenesis of the corpus callosum. The trisomic cell line was observed throughout the follow-up examinations from the fibroblast cultures between 1962 and 1973, but has disappeared from the lymphocyte culture. The clinical picture of this case is compared with the leading clinical signs and symptoms of the 25 cases with confirmed trisomy 8 so far published. A scheme is proposed in order to keep in mind the clinical picture suggesting trisomy 8. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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