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 کاملpractice 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 کاملPractice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report
We present 2 cases of likely rare event. In case 1, 3(rd) 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 کاملFamilial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities.
Clinical and pathological findings are reported in two siblings who presented in the neonatal period with failure to thrive, hypotonia, pericardial effusions, limitation of joint movement, retinal dystrophy and loss of visual function. Additional features were biochemical evidence of purine overproduction and liver dysfunction. Post mortem, the neuropathological findings in both children were t...
متن کاملRetinal abnormalities characteristic of inherited renal disease.
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...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1983
ISSN: 1468-6244
DOI: 10.1136/jmg.20.4.316