نتایج جستجو برای: consanguinity marriage genetic counseling
تعداد نتایج: 659401 فیلتر نتایج به سال:
In a diploid, outbreeding organism like man the deleterious mutants carried by the population are only partly expressed in each generation, being largely concealed by heterozygosis with more favorable alleles. However, the total hidden-mutational damage carried by the population can be estimated indirectly from the detrimental effects of consanguineous marriage. This method, applied to mortalit...
Neurometabolic diseases diagnosed by cerebrospinal fluid (CSF) examination are GLUT1 deficiency, serine-deficiency syndromes, glycine encephalopathy, cerebral folate deficiency, neonatal vitamin-responsive epileptic encephalopathies, disorders of monoamine metabolism, and y-amino butyric acid (GABA) metabolism. We retrospectively analyzed and compared the demographic, clinical, laboratory, and ...
PROBLEM Primary Immunodeficiency Disorders (PiD) are a heterogeneous group of genetic disorders, with different modes of inheritance. This study was accomplished in order to determine the frequency of consanguineous marriages in the families of patients with PiD. METHOD In this study, the records 515 Iranian PiD patients were reviewed during a 25-year period. RESULTS The mean proportion of ...
Basic sciences attract specific attention of medical professionals worldwide. Medical genetics can bridge between clinical observations and basic sciences via specific focus on the molecular aspects of diseases. Importance of genetic counseling as the main part of management of inherited disorders should be realized by all physicians. This paper provides genetic counseling essentials with main ...
BACKGROUND It is often suggested that an effort must be made to increase awareness among consanguineous couples of their reproductive risk, and to refer them for genetic counseling if needed. Primary care professionals are considered most appropriate for addressing the subject and identifying couples at risk during consultations in their practice. This Dutch study aims to explore the experience...
There is little information on inbreeding during the critical early years of human existence. However, given the small founding group sizes and restricted mate choices it seems inevitable that intrafamilial reproduction occurred and the resultant levels of inbreeding would have been substantial. Currently, couples related as second cousins or closer (F ≥ 0.0156) and their progeny account for an...
Consanguineous marriages are practiced worldwide but very common as social characteristic norms of the tribal society Pakistan and have reached (~63%). Couples married within blood relatives, inheriting different genetic disorders including epilepsy in their offspring.
 Objectives: The present work is ever first attempt to reaffirm association between disease (ED) consanguinity Tribal Soci...
INTRODUCTION Resistance to thyroid hormone is a rare syndrome, where although the level of thyroid hormone is elevated, the level of thyroid stimulating hormone is not suppressed. The patient in our case report is, to the best of our knowledge, the first with this syndrome identified in Oman. CASE PRESENTATION In one Omani family, a 15-year-old girl of Arabian origin was pre-diagnosed with re...
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