Genetic Disorders Flashcards
Trinucleotide Repeat Disorder- associated with: CGG
Chromosome?
Fragile X
Chromosome: X
Trinucleotide Repeat Disorder- associated with: GAA
Chromosome?
Fredrich Ataxia - chromosome 9
Trinucleotide Repeat Disorder- associated with: CAG
Chromosome?
Huntington’s Disease - chromosome 4
Trinucleotide Repeat Disorder- associated with: CTG
Chromosome? Gene name?
Myotonic Dystrophy
Chromosome: 19
Gene: DMPK
Robertsonian translocations usually occur on what pairs of chromosomes?
13, 14, 15, 21, and 22
Congenital microdeletion of short arm of chromosome 5 results in what?
Cri-du-chat syndrome
Elfin facies, intellectual disability, hypercalcemia. Congenital microdeletion of long arm of chromosome __ results in what?
Williams Syndrome - chromosome 7
Congenital microdeletion at 22q11 –> results in what?
DiGeorge Syndrome - thymus, parathyroid, and cardiac defects.
Velocardial syndrome - palate, facial, and cardiac defects.
(Assoc. with aberrant development of 3rd and 4th brachial pouches).
Most common human enzyme deficiency, X-linked recessive disorder. More prevalent among blacks–> increases material resistance. Denatured Hemoglobin ppts w/in RBCs due to oxidative stress. What are those also called?
Glucose-6-phosphate dehydrogenase deficiency
–> Heinz bodies. When those Heinz bodies are removed, by splenic macrophages, they are are called ‘Bite cells.’
Autosomal dominant. Mutation in NF1 gene on chromosome 17.
Neurocutaneous disorder café-au-lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas.
Von Recklinghausen disease - Neurofibromatosis type 1
Bilateral acoustic Schwannomas, juvenile cataracts, meningiomas, and ependymomas. Found on chromosome 22.
Neurofibromatosis type 2 - NF2 gene
X-Linked disorder typically due to frameshift mutation. Weakness in pelvic girdle muscles and progresses superiorly. Pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle. Dilated cardiomyopathy is most common cause of death. What gene is also involved?
Duchenne muscular dystrophy.
Gene: DMD
Chromosomal Disorders - Chromosome: 3
- von Hippel-Lindau disease
- Renal cell carcinoma
Chromosomal Disorders - Chromosome: 4
- ADPKD with PKD2 defect
- Huntington’s Disease
Chromosomal Disorders - Chromosome: 5
- Cri-du-chat syndrome
- Familial adenomatous polyposis
Chromosomal Disorders - Chromosome: 7
- Williams Syndrome
- Cystic Fibrosis
Chromosomal Disorders - Chromosome: 9
-Friedreich ataxia
Chromosomal Disorders - Chromosome: 11
Wilms tumor
Chromosomal Disorders - Chromosome: 13
- Patau syndrome
- Wilson Disease
Chromosomal Disorders - Chromosome: 15
- Prader-Willi Syndrome
- Angelman syndrome
Chromosomal Disorders - Chromosome: 16
ADPKD and PKD1 defect
Chromosomal Disorders - Chromosome: 17
Neurofibromatosis type 1
Chromosomal Disorders - Chromosome: 18
Edwards Sindrome
Chromosomal Disorders - Chromosome: 21
Down syndrome
Chromosomal Disorders - Chromosome: 22
- Neurofibromatosis type 2
- DiGeorge syndrome (22q11)
Chromosomal Disorders - Chromosome: X
- Fragile X Syndrome
- X-linked agammaglobulinemia
- Kleinfelter syndrome XXY
What disease is being described: benign disease caused by deficiency of homogentisic acid oxidase. Patient has dark organs and dark connective tissue. Urine turns dark…. what is it?
Alkaptonuria
What deficiency is seen in Galactosemia?
Galactose-1-phosphate Uridyltransferase
What dietary restrictions should patients with homocysteinuria avoid?
Methionine
What dietary restrictions should a patient with alkaptonuria avoid?
Tyrosine
What three AAs should patients with BCAA (branched chain AA) avoid?
Leucine, isoleucine, valine
