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Flashcards in The non-organ system diseases Deck (13)
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1
Q

What is the genetic defect in Fragile X syndrome

A

Defect affecting methylation and expression of FMRI gene

2
Q

Fragile X syndrome is the __ most common cause of genetic intellectual disability

A

2nd (after down syndrome)

3
Q

What are the clinical findings in Fragile X syndrome?

A

Post pubertal macroorchidism, long face with large jaw, large everted ears, autism, mitral valve prolapse (Extra large testes, jaw, ears)

4
Q

What is the mode of inheritance of fragile X syndrome?

A

X-linked trinucleotide repeat disorder (CGG)

5
Q

What trinucleotide repeat expansion involves CTG nucleotides and the DMPK gene?

A

Myotonic Type 1 Dystrophy

6
Q

What is abnormally expressed in Myotonic Type 1 Dystrophy? What does this lead to?

A

Myotonin protein kinase - Myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, and arrhythmia

7
Q

What disease is caused by a meiotic nondisjunction of homologous chormosomes associated with advanced maternal age?

A

Down Syndrome (Trisomy 21)

8
Q

What is the genetic defect in Cri-du-chat syndrome?

A

Congenital microdeletion of short arm of chromosome 5

9
Q

What is the genetic defect in Williams syndrome?

A

Congenital microdeletion of long arm of chromosome 7 (deleted region includes elastin gene)

10
Q

What is the clinical presentation of Williams syndrome?

A

“Elfin” facies, intellectual disability, hypercalcemia (increased sensitivity to Vitamin D), well developed verbal skills, extreme friendliness with strangers

11
Q

What is CATCH-22 in DiGeorge syndrome?

A

Cleft palate, Abnormal facies, Thymic aplasia (T cell deficiency), Cardiac defects, Hypocalcemia - Microdeletion at 22q11

12
Q

What deficiency leads to phenlketonuria?

A

Due to decreased phenylalanine or decreased tetrahydrobiopterin cofactor

13
Q

What findings are associated with Von Hippel Lindau disease?

A

Cerebellar hemangioblastomas
Clear cell renal carcinoma
Pheochromocytoma