A microdeletion of PRKARIA associated with Carney complex
نویسندگان
چکیده
منابع مشابه
Complex phenotype associated with 17q21.31 microdeletion.
We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably the result of recombination between flanking low-copy repeats. Due to the complexity of the patient...
متن کامل[Carney complex].
Carney complex (CNC) is an autosomal dominantly inherited syndrome characterized by spotty skin pigmentation, cardiac and cutaneous myxoma, and endocrine overactivity. Skin pigmentation includes lentigines and blue nevi. Myxomas may occur in breast, skin and heart. Cardiac myxomas may be multiple and occur in any cardiac chamber, and are more prone to recurrence. The most common endocrine gland...
متن کاملA case of familial Carney complex.
Carney complex is a syndrome characterized by skin pigmentation abnormalities, myxomas, endocrine tumors/overactivity, and schwannomas. It is caused by a mutation in the PRKAR1A gene that encodes the enzyme protein kinase A regulatory subunit type 1 alpha. A 23-year old male was diagnosed with Carney complex on the basis of spotty skin lentigines on his face and lips, multiple thyroid neoplasms...
متن کاملsudden death in a patient with carney's complex
carney’s complex is a rare autosomal dominantly inherited multiple endocrine neoplasia syndrome that involves spotty skin pigmentations, recurrent cardiac myxomas, endocrine hyperactivity, pituitary adenomas, peripheral nerve tumors, testicular tumors, and ovarian lesions. we present a case of sudden cardiac death in a 40 year old female with a history of carney’s complex with recurrent cardiac...
متن کاملمعرفی یک مورد سندرم Carney Complex
سندرم کارنی (Carney Complex) یک سندرم اتوزومال غالب است که با تومورهای مختلف شامل میکزوما در محل‌های متفاوت، تومورهای اندوکرین و ضایعه‌های لنتیگو مشخص می‌شود و تاکنون در ایران گزارش نشده است. بیماری که دراین مقاله معرفی می‌شود، زن 27 ساله‌ای است که با علایم درد پهلو، مراجعه کرده بود. در معاینه با توجه به علایم هیرسوتیسم، چاقی تنه‌ای، هیپرپیگمانتاسیون و هیپرتانسیون، سندرم کوشینگ مطرح شد و با آزم...
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ژورنال
عنوان ژورنال: Endocrine Abstracts
سال: 2016
ISSN: 1479-6848
DOI: 10.1530/endoabs.41.ep44