منابع مشابه
Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report
We present 2 cases of likely rare event. In case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. The same inv(6) being inherited in progeny but presented with low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...
متن کاملMolecular abnormalities of collagen.
Many inherited abnormalities of collagen are likely and may be listed under the following headings as proved, probable, or possible. Proved Ehlers-Danlos syndrome (EDS) (types III, IV, V, VI, VII); osteogenesis imperfecta (broadboned type); thanatophoric dwarfism; dermatosparaxis (animal equivalent of EDS VII); blotchy mice (animal equivalent of EDS V). Probable Marfan syndrome; pseudoxanthoma ...
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Many inherited renal diseases have retinal features that are helpful diagnostically. These include coloboma, drusen, atrophy and pigmentation (retinitis pigmentosa), hamartoma, vascular anomalies, and crystals. Retinal abnormalities occur because the kidney and retina share developmental pathways and structural features including basement membrane collagen IV protomer composition and their vasc...
متن کاملCollagen genes and inherited connective tissue disease.
Since it was established that defects in collagen metabolism were associated with inherited connective tissue disease (McKusick, 1972), considerable effort has been put into discovering the molecular basis of these genetic disorders. Up to 5 years ago a link between structural mutations in collagen genes and inherited connective tissue disease was considered likely, but there was little direct ...
متن کاملMolecular abnormalities of collagen in human disease.
Collagen proteins are a diverse family of structural materials serving a mechanical supportive role in widely varied tissues such as skin, bone, muscle, blood vessels, cartilage, pleuroperitoneal linings, hollow tubular organs, tendons, heart valves, and basement membranes. They may also possess a crucial directive role in embryogenesis and fetal development. The molecules are large, ranging be...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1981
ISSN: 1468-6244
DOI: 10.1136/jmg.18.2.142