Biochem - Genetics (Part 2) Flashcards Preview

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Flashcards in Biochem - Genetics (Part 2) Deck (115)
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91

Marfan's syndrome is associated with what ocular pathology?

Subluxation of the lenses

92

What is the inheritance pattern of multiple endocrine neoplasias?

These syndromes are inherited in an autosomal dominant fashion

93

How many syndromes are considered multiple endocrine neoplasias?

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

94

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

Pancreas, pituitary, parathyroid, thyroid, and adrenal medulla

95

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

ret gene

96

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

97

What is the mode of inheritance of neurofibromatosis type 1?

Autosomal dominant

98

What is another name for neurofibromatosis type 1?

von Recklinghausen;s disease

99

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)

100

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)

101

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

Lisch nodules

102

What are the dermatologic findings in neurofibromatosis type 1?

Caf au lait spots and axillary freckling

103

What neoplasms are associated with neurofibromatosis type 1?

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

104

What is the mode of inheritance for neurofibromatosis type 2?

Autosomal dominant

105

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

Neurofibromatosis type 2

106

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

107

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

NF2, 22 (remember: Type 2 = 22)

108

What is the mode of inheritance of tuberous sclerosis?

Autosomal dominant

109

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

110

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

111

What is a cardiac manifestation of tuberous sclerosis?

Cardiac rhabdomyoma

112

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

Astrocytoma

113

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

114

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

Autosomal dominant

115

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