منابع مشابه
Genes, Hereditary Diseases and Their Transmission - A Summary of Genetic Disease Early Detection Methods
In this article the major genetic disorders and the modes of their transmission is discussed. We have also briefly mentioned the modalities by which many of the genetic diseases can be detected before birth. The genetic counselling is helpful in many ways in order to advise the parents for keeping the fetus or terminating the pregnancy. The physician can reduce the anxiety of the parents, but t...
متن کاملA Hereditary Congenital Anomaly with Autosomal Recessive Transmission
Pyloric atresia is a rare congenital anomaly; to date, only 29 newborns with this defect have been reported. Though familial occurrence of this anomaly has been reported twice (Benson and Coury, 1951; Thompson et al, 1968; Bronsther, Nadeau, and Abrams, 1971), no previous comments have been made concerning a possible genetic aetiology. The purpose of this paper is to report 5 additional familia...
متن کاملPyloric atresia. A hereditary congenital anomaly with autosomal recessive transmission.
Pyloric atresia is a rare congenital anomaly; to date, only 29 newborns with this defect have been reported. Though familial occurrence of this anomaly has been reported twice (Benson and Coury, 1951; Thompson et al, 1968; Bronsther, Nadeau, and Abrams, 1971), no previous comments have been made concerning a possible genetic aetiology. The purpose of this paper is to report 5 additional familia...
متن کاملExpandable DNA Repeat and Human Hereditary Disorders
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
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ژورنال
عنوان ژورنال: Nature
سال: 1879
ISSN: 0028-0836,1476-4687
DOI: 10.1038/019197b0