Biochem - Genetics (Part 2) Flashcards Preview

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Flashcards in Biochem - Genetics (Part 2) Deck (115)
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Marfan's syndrome is associated with what ocular pathology?

Subluxation of the lenses


What is the inheritance pattern of multiple endocrine neoplasias?

These syndromes are inherited in an autosomal dominant fashion


How many syndromes are considered multiple endocrine neoplasias?

Three, known as MEN I, MEN II, and MEN III


Name 5 endocrine organs that develop tumors in the multiple endocrine neoplasia syndromes.

Pancreas, pituitary, parathyroid, thyroid, and adrenal medulla


Which gene mutation causes multiple endocrine neoplasias 2A and 2B?

ret gene


A tall male patient enters the emergency room with the combination of a dissecting ascending aorta and acute mitral valve prolapse; what disorder might explain these findings?

Marfan's syndrome is associated with cystic medial necrosis of the aorta which may lead to a dissection, as well as a floppy mitral valve prone to prolapse


What is the mode of inheritance of neurofibromatosis type 1?

Autosomal dominant


What is another name for neurofibromatosis type 1?

von Recklinghausen;s disease


Neurofibromatosis type 1 (von Recklinghausen's disease) is associated with a mutation on which chromosome?

Chromosome 17 (remember: there are 17 letters in von Recklinghausen)


A patient has caf-au-lait spots, Lisch nodules, scoliosis, neural tumors, and pheochromocytoma. What is the most likely diagnosis?

Neurofibromatosis type 1 (von Recklinghausen's disease)


What is another term for the pigmented iris hamartomas associated with neurofibromatosis?

Lisch nodules


What are the dermatologic findings in neurofibromatosis type 1?

Caf au lait spots and axillary freckling


What neoplasms are associated with neurofibromatosis type 1?

Neural tumors, optic pathway gliomas, pheochromocytoma, and overall increased tumor susceptibility


What is the mode of inheritance for neurofibromatosis type 2?

Autosomal dominant


A patient has bilateral acoustic neuroma, optic pathway gliomas, and juvenile cataracts. What is the most likely diagnosis?

Neurofibromatosis type 2


True or False? Neurofibromatosis type 2 is associated with skin findings that are similar to those of neurofibromatosis type 1.

False; neurofibromatosis type 2 is not associated with abnormal skin findings


Neurofibromatosis type 2 is a result of a mutation in the gene _____ found on chromosome _____.

NF2, 22 (remember: Type 2 = 22)


What is the mode of inheritance of tuberous sclerosis?

Autosomal dominant


A patient has adenoma sebaceum on his face, ash leaf spots on his trunk, mental retardation, and seizures. What the most likely diagnosis?

Tuberous sclerosis


What renal findings might distinguish a patient with tuberous sclerosis from a patient with adult polycystic kidney disease ?

While both will have renal cysts, tuberous sclerosis is associated with renal angiomyolipomas


What is a cardiac manifestation of tuberous sclerosis?

Cardiac rhabdomyoma


Compared to the general population, patients with tuberous sclerosis have an increased incidence of which brain tumor?



True or False? All patients who inherit the gene in tuberous sclerosis will display very similar signs and symptoms.

False; although autosomal dominant, this disease has incomplete penetrance and a variable presentation


What is the mode of inheritance of von Hippel-Lindau disease?

Autosomal dominant


A patient has hemangioblastomas of the retina and cerebellum, as well as bilateral renal cell carcinoma. What is the most likely diagnosis?

von Hippel-Lindau disease