Turcot's syndrome evidence for autosomal dominant inheritance
نویسندگان
چکیده
منابع مشابه
Sulcus vocalis: evidence for autosomal dominant inheritance.
We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy (one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four patients. The finding of four affected individuals in three generat...
متن کاملCampomelic dysplasia: evidence of autosomal dominant inheritance.
We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.
متن کاملAutosomal dominant inheritance of Weaver syndrome.
Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.
متن کاملFamilial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance.
OBJECTIVE To develop diagnostic criteria for a familial form of antiphospholipid antibody syndrome (APS), identify families with >1 affected member, examine possible modes of inheritance, and determine linkage to potential candidate genes. METHODS Family members of probands with primary APS were analyzed for clinical and laboratory abnormalities associated with APS. Families with > or =2 affe...
متن کاملFamilial misophonia or Selective Sound Sensitivity Syndrome: evidence for autosomal dominant inheritance?
INTRODUCTION Misophonia is a recently described, poorly understood and neglected condition. It is characterized by strong negative reactions of hatred, anger or fear when subjects have to face some selective and low level repetitive sounds. The most common ones that trigger such aversive reactions are those elicited by the mouth (chewing gum or food, popping lips) or the nose (breathing, sniffi...
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ژورنال
عنوان ژورنال: Cancer
سال: 1983
ISSN: 0008-543X,1097-0142
DOI: 10.1002/1097-0142(19830201)51:3<524::aid-cncr2820510326>3.0.co;2-i