Probabilities on inheritance in consanguineous families, VIII
نویسندگان
چکیده
منابع مشابه
Genetic counseling of consanguineous families. Use of Smith's method to calculate recurrence risks in multifactorial inheritance in consanguineous matings.
A modification of Smith's method is described for deriving recurrence risks for multifactorial conditions when parents are related. Using cleft palate as an example, the possible increased risks caused by consanguinity are discussed.
متن کاملIdentifying genes responsible for intellectual disability in consanguineous families.
Consanguinity is an important determinant of birth defects including intellectual disability (ID). Consanguineous populations have a relative high prevalence of autosomal recessive forms of intellectual disability (ARID), which constitute a highly heterogeneous group of disorders both in their clinical presentation and in their genetic aetiology. The availability of large cohorts of consanguine...
متن کاملDistinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
OBJECTIVE We sought to create a classification system for pediatric corpus callosal abnormalities (CCA) based upon midline sagittal brain MRI. We used the term CCA for patients with structural variants of the corpus callosum, excluding patients with interhemispheric cyst variant or pure dysplasia without hypoplasia. Currently, no system exists for nonsyndromic forms of CCA, and attempts to crea...
متن کاملNovel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
OBJECTIVE Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG. DESIGN Because consanguinity in individuals with a presumptive genetic condition is often an indicat...
متن کاملGenetic causes of MCPH in consanguineous Pakistani families.
This is the final version of the manuscript. It is the peer reviewed version of the following article: Kraemer, N., Picker-Minh, S., Abbasi, A. A., Fröhler, S., Ninnemann, O., Khan, M. N., Ali, G., Chen, W. and Kaindl, A. M. (2016), Genetic causes of MCPH in consanguineous Pakistani families. Clin Genet, 89: 744–745. doi:10.1111/cge.12685 which has been published in final form in: Clinical Gene...
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ژورنال
عنوان ژورنال: Proceedings of the Japan Academy, Series A, Mathematical Sciences
سال: 1954
ISSN: 0386-2194
DOI: 10.3792/pja/1195526149