Surveillance/Management of an Obligate Gene Carrier: The Cancer Family Syndrome
نویسندگان
چکیده
منابع مشابه
the study of aaag repeat polymorphism in promoter of errg gene and its association with the risk of breast cancer in isfahan region
چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
15 صفحه اولIdentification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
متن کاملIdentification of the Peroxisomal Biogenesis Factor 1 Gene Point Mutation in an Iranian Family with Zellweger Syndrome (ZS)
Background & Objective: Peroxisome biogenesis disorders (PBDs) are a group of diseases with peroxisomal dysfunction. Wide range of symptoms are associated with the disease which are due to mutations in the PEX genes. The PEX1 mutation occurs in Zellweger syndrome (ZS), a severe autosomal recessive condition with hypotonia, intellectual disability, and hepatic enlargement. The present study ...
متن کاملIdentification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.
A case of mosaic Turner's syndrome with a 45,X/46,XX/47,XXX karyotype, who was also a fragile X obligate carrier as the mother of an affected boy, was identified by molecular diagnosis. Complete haplotyping and direct DNA analysis showed that the X chromosome in all metaphases was the normal X. At the age of 57, she is mentally normal. Her external appearance was typical of Turner's syndrome. T...
متن کاملWaardenburg Syndrome in an Arab Family
By Laman Amin -ZaKI (Baghdad), The Journal of Laryngology and Otology, 1971.
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: Gastroenterology
سال: 1983
ISSN: 0016-5085
DOI: 10.1016/s0016-5085(83)80141-3