Family with probable achondrogenesis and lipid inclusions in fibroblasts
| Autor: | Renata Laxova, M. A. C. Ridler, J. A. D. Timothy, Peter T. Ohara |
|---|---|
| Rok vydání: | 1973 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Amniotic fluid Genetic counseling Fibroblast cultures Genetic Counseling Inclusion bodies Achondroplasia Andrology Pregnancy Humans Medicine Fetal Death reproductive and urinary physiology Cells Cultured Phospholipids Inclusion Bodies Staining and Labeling business.industry Achondrogenesis Infant Newborn Original Articles Fibroblasts Amniotic Fluid medicine.disease Lipids female genital diseases and pregnancy complications Pedigree Sphingomyelins body regions Microscopy Electron Cholesterol Pediatrics Perinatology and Child Health Immunology Term Birth Female Chromatography Thin Layer business |
| Zdroj: | Archives of Disease in Childhood. 48:212-216 |
| ISSN: | 1468-2044 0003-9888 |
| Popis: | Three stillborn sibs, two males and a female, with probable achondrogenesis, whose parents are first cousins, are reported. Fibroblast cultures revealed numerous large intracellular lipid inclusions in the two stillborns, which were available for investigation, and these were found to a lesser degree in the mother. No similar inclusions were detected in cultured amniotic cells from a 16-week pregnancy which eventually terminated in the term birth of a healthy female. The importance of a correct diagnosis and implications for genetic counselling are discussed. |
| Databáze: | OpenAIRE |
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