منابع مشابه
Retinoblastoma – Genetic Counseling and Molecular Diagnosis
Retinoblastoma is a malignant embryonal tumour of childhood arising at the expense of retinal cones. It has an incidence of 1 per 15,000 to 20,000 births. In 90% of cases, it is diagnosed before the age of 3 years. The possibility of conservative management depends on early diagnosis (Moll et al., 1996). However, although treatment strategies have advanced considerably, the visual prognosis is ...
متن کاملRB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma is a potentially curable cancer and an early diagnosis is critical for survival and eye preservation. Unilateral retinoblastoma is mostly non-herit...
متن کاملGenetic counseling.
OBJECTIVE The objective of this review of genetic counseling (GC) is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. SOURCES The concepts presented are based on an his...
متن کاملFrom genetic counseling to “genomic counseling”
Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing, informed consent, and psychosocial assessment a...
متن کاملGenetic Counseling and Genetic Screening
major congenital anomaly. About one half of these anomalies are detected at birth; the remainder becomes evident later in childhood or, less often, adulthood. Although nongenetic factors may cause malformations, genetic factors are usually responsible. In addition, more than 50 percent of fi rst-trimester spontaneous abortions and at least 5 percent of stillborn infants have chromosomal abnorma...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1991
ISSN: 0007-1161
DOI: 10.1136/bjo.75.7.447-b