Recurrence risks for isolated cases of nonsyndromic deafness
نویسندگان
چکیده
منابع مشابه
Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists.
We report here the results of a questionnaire survey of consultant clinical geneticists in the United Kingdom to which we had an 81% response rate. In this questionnaire we asked about: (1) the nature of services currently offered to families with hearing impaired children, (2) what recurrence risks they quoted in isolated non-syndromic cases, and (3) what they might suggest for improving the r...
متن کاملMYO1F as a candidate gene for nonsyndromic deafness, DFNB15.
BACKGROUND Earlier studies have mapped the autosomal recessive nonsyndromic deafness locus, DFNB15, to chromosomes 3q21.3-q25.2 and 19p13.3-13.1, identifying one of these chromosomal regions (or possibly both) as the site of a deafness-causing gene. Mutations in unconventional myosins cause deafness in mice and humans. One unconventional myosin, myosin 1F (MYO1F), is expressed in the cochlea an...
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گزارش موارد جدید و عود سل که در دسامبر ۱۹۹۴ به سازمان بهداشت جهانی ارائه شده بود، تحت عنوان گزارش جدید سل در دسامبر ۱۹۹۴ مورد تجزیه و تحلیل قرار گرفت. بیشتر اطلاعات توسط کشورهای عضو، از سازمان بهداشت جهانی ناحیه ای و ادارات بهداشتی کشورها و یا مستقیماً از برنامه های ملی مبارزه با سل تهیه گردیده بود. علاوه بر آن، اطلاعات حاصله از اتحادیه بین المللی مبارزه با سل، بیماریهای ریوی و مروری بر مطالعات...
متن کاملNonsyndromic Isolated Temporal Bone Styloid Process Fracture.
INTRODUCTION Fracture of the styloid process (SP) of the temporal bone is a rare traumatic injury in normal individuals who are not suffering from Eagle's syndrome. Diagnosis and management of this problem requires comprehensive knowledge about its signs and symptoms. This study aimed to present an isolated styloid process fracture in a nonsyndromic patient. CASE PRESENTATION A 50-year-old ma...
متن کاملA recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
Mutations in the DFNB1 locus, where two connexin genes are located (GJB2 and GJB6), account for half of congenital cases of nonsyndromic autosomal recessive deafness. Because of the high frequency of DFNB1 gene mutations and the availability of genetic diagnostic tests involving these genes, they are the best candidates to develop a risk prediction model of being hearing impaired. People underg...
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ژورنال
عنوان ژورنال: Genetics and Molecular Biology
سال: 2004
ISSN: 1415-4757
DOI: 10.1590/s1415-47572004000200004