ABC of Clinical Genetics
نویسندگان
چکیده
منابع مشابه
ABC of clinical genetics. Genetics of cancer.
Pigmentation of lips in Peutz-Jeghers syndrome. Development of cancer is related to both environmental carcinogens and genetic predisposition. Though the risk of a common cancer occurring in relatives ofan affected person is generally low, familial aggregations that cannot be explained by environmental factors alone exist in some O neoplasms, such as breast and ovarian cancers and melanomas. In...
متن کاملABC of clinical genetics. Estimation of risk.
1/4 1/4 The 50% risk of developing a condition for the offspring of an affected person may be modified by age in disorders whose onset is in adult life, such as Huntington's chorea. In examples 1 and 2 the risk to person B of developing Huntington's chorea is still 50% at age 30 years, but by the age of 65 the residual risk to a healthy person has fallen to 10%. The risk to person C therefore f...
متن کاملABC of clinical genetics. Chromosomal disorders II.
Developmental delay in child with deletion of chromosome 13. Chromosomal abnormalities are generally associated with multiple congenital malformations and mental retardation. Children with more than one physical abnormality, particularly if retarded, should therefore undergo chromosomal analysis as part of their investigation. Chromosomal disorders are incurable but can be reliably detected by ...
متن کاملABC of clinical genetics. Dysmorphology and teratogenesis.
Treacher Collins syndrome: abnormal first branchial arch development giving rise to malar and mandibular hypoplasia with external ear malformations. Dysmorphology is the study of malformations arising from abnormal embryogenesis. Recognition of patterns of multiple congenital malformations may allow inferences to be made about the timing, mechanism, and aetiology of structural defects. Animal r...
متن کاملABC of clinical genetics. Techniques of DNA analysis.
Molecular genetics laboratory. DNA analysis is becoming a standard investigation in an increasing number of mendelian disorders. The genetic state of family members and pregnancies at risk can be determined in many conditions, including the haemoglobinopathies, Duchenne muscular dystrophy, cystic fibrosis, and Huntington's chorea. The index case is generally diagnosed by means of conventional i...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1990
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.65.3.338-a