Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities
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چکیده
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 کاملConsanguinity and genetic disorders. Profile from Jordan.
OBJECTIVE With 20-30% of all marriages occurring between first cousins, increasing attention in Jordan is now given to role of consanguinity in the occurrence of genetic diseases. The objective of this study is to define the specific categories of genetic disorders associated with consanguineous marriages. METHODS Etiological categories and consanguinity rates were studied among 623 families ...
متن کاملConsanguinity and disorders of sex development.
Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical' [Lee et al., Pediatrics 2006;118:e488-e500]. Studies conducted in Western countries, with low rates of consanguinity, show that truly ambiguous genitalia have an estimated incidence of 1:5,000 births. There are indications that the prevalence ...
متن کاملThe Frequency of Consanguinity and Its Related Factors in Parents of Children with Genetic Disorders
Background and Objective: Consanguinity increases the incidence of genetic disorders. The frequency of consanguinity varies in different societies. There was no data regarding the frequency of consanguinity in Zanjan province. This study aimed to describe the prevalence of consanguineous unions in the parents of children with genetic disorders and its related factors in Zanjan, Iran. Materials...
متن کاملA Measure of Consanguinity
A natural numerical measure of consanguinity is developed that applies to individuals with arbitrary multiple kinship connections. For simple relationships the consanguineal distance specializes to the civil degree, less two if the relationship goes through full siblings. This measure is deduced from axioms motivated by an heuristic picture of blood mixtures. The formula suggests a quantum mech...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2020
ISSN: 1750-1172
DOI: 10.1186/s13023-020-01578-3