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 کاملA familial variant chromosome in the 13-15 group.
Court Brown, Jacobs, and Brunton (1965) carried out a survey on 438 randomly chosen persons and demonstrated that 2 9% of a total of 207 men and 1-3% of a total of 231 women showed variants in their chromosome complements. The criteria they adopted were as follows. (1) That the variant chromosome should be observed in most of the cells. (2) That its presence should be detected in more than one ...
متن کاملSomatic uniparental disomy of Chromosome 16p in hemimegalencephaly
Hemimegalencephaly (HME) is a heterogeneous cortical malformation characterized by enlargement of one cerebral hemisphere. Somatic variants in mammalian target of rapamycin (mTOR) regulatory genes have been implicated in some HME cases; however, ∼70% have no identified genetic etiology. Here, we screened two HME patients to identify disease-causing somatic variants. DNA from leukocytes, buccal ...
متن کاملFamilial hypercholesterolemia: a case report
Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...
متن کاملA FAMILIAL CASE OF PEMPHIGUS VULGARIS
A family in which two members are affected by pemphigus vulgaris is presented from Gilan. Up to now only 25 families in which more than one member was affected have been reported
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.1.60