An Ashkenazi Jewish woman presenting with favism
نویسندگان
چکیده
منابع مشابه
An Ashkenazi Jewish woman presenting with favism.
The case of a 44 year old Ashkenazi Jewish woman of Russian origin who presented with a typical clinical and haematological picture of favism is reported. There was initial difficulty in confirming glucose-6-phosphate dehydrogenase (G6PD) deficiency because the enzyme concentrations were normal at presentation, but later fell to a concentration compatible with heterozygosity for the Mediterrane...
متن کاملHereditary chondrocalcinosis in an Ashkenazi Jewish family.
A hereditary chondrocalcinosis is described for the first time in an Ashkenazi Jewish kindred. Of 34 family members in five generations, seven had medical history suggesting the disease. Five of 25 members of generations III-V had direct evidence for their disease. Characteristically, symptoms started at a fairly early age (third decade) while radiological evidence of chondrocalcinosis was dela...
متن کاملCE in the Ashkenazi Jewish population
The MSH2*1906GRC mutation was recently shown to be a rare yet highly penetrant mutation leading to colorectal cancer. The mutation was only found among Ashkenazi Jewish individuals and lies on an extended haplotype that is common in that population. This study determined that the mutation probably arose between 11 and 22 generations ago, during the time when the Ashkenazim were living in easter...
متن کاملGerm-line BRCA1 mutation is an adverse prognostic factor in Ashkenazi Jewish women with breast cancer.
Germ-line mutations in BRCA1 confer an increased risk of developing breast and ovarian cancer, but little is known about the clinical course of breast cancer in BRCA1 mutation carriers compared with noncarriers. Two recurrent BRCA1 mutations (185delAG and 5382insC) are common ( approximately 1.3%) in Ashkenazi Jews and account for about 20% of breast cancers diagnosed before age 40 in this grou...
متن کاملA novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia
PURPOSE To report a novel de novo PAX6 mutation in an Ashkenazi-Jewish family with autosomal dominant aniridia. METHODS A mother and her daughter of Ashkenazi-Jewish origin were diagnosed with aniridia. Blood samples were drawn from family members and DNA was analyzed by direct sequencing and microsatellite marker analysis. RESULTS The index patient and her daughter were affected with aniri...
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: Journal of Clinical Pathology
سال: 2005
ISSN: 0021-9746
DOI: 10.1136/jcp.2004.017426