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Patho > Genetics > Flashcards

Genetics Flashcards

1
Q

What is the most common cause of aneuploidy?

A

Meiotic nondisjunction

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2
Q

A variant of translocation in which the long arms of two acrocentric chromosomes are joined with a common centromere and short arms are lost.

A

Robertsonian translocation

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3
Q

The result of a transverse rather than longitudinal division of a chromosome resulting in two new chromosome.

A

Isochromosome formation

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4
Q

What is the most frequently occurring chormosomal disorder?

A

Down Syndrome

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5
Q

This is a condition caused by deletion of short arm of chromosome 5?

A

Cri du chat Syndrome

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6
Q

What are the characteristics present in a person with DiGeorge Syndrome?

A 
CATCH-22
Cardiac defect
Abnormal facies
T cell deficiency
Cleft palate
Hypocalcemia
microdeletion of chromosome 22q11
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7
Q

What is the characteristic karyotype present in Klinefelter syndrome?

A

Karyotype 47XXY

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8
Q

A condition characterized as a complete or partial monosomy of the X chromosome?

A

Turner syndrome (Karyotype 45,XO)

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9
Q

A phenomenon associated with an earlier onset and more sever manifestations in successive generations?

A

Anticipation

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10
Q

A condition characterized to have an increased number of CGG tandem repeats?

A

Fragile X syndrome

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11
Q

A condition with a del (15)(q11q13) transmitted by the father?

A

Prader-Willi Syndrome

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12
Q

A condition with a del (15)(q11q13) transmitted by the mother?

A

Angelmann Syndrome

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13
Q

A condition due to an inherited defect in an extracellular glycoprotein called fibrillin-1?

A

Marfan Syndrome

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14
Q

Most common defect in Ehlers-Danlos Syndrome?

A

Type III Collagen

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15
Q

A condition characterized by lysosomal accumulation of sphingomyelin due to an inherited deficiency of sphingomyelinase?

A

Niemann-Pick Disease

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16
Q

Differentiate Niemann-Pick from Tay-Sachs Disease.

A

Niemann-Pick Disease present with hepatosplenomegaly.

17
Q

A condition that present morphologically with a distended phagocytic cells with a crumpled tissue paper appearance?

A

Gaucher Disease (Gaucher cells)

18
Q

A group of disorder characterized with deficiencies of lysosomal enzymes involved in the degradation of mucopolysaccharides (glycosaminoglycans)?

A

Mucopolysaccharidoses

19
Q

A type of mucopolysaccharidoses with defect in enzyme Iduronosulfate sulfatase? What type of inheritance?

A

Type II Hunter. X-linked recessive.

20
Q

A deficiency of this enzyme leads to Tay-Sachs disease leading to accumulation of GM2 ganglioside?

A

Hexosaminidase A

21
Q

A disorder characterized by deficiency of glucosylceramidase resulting in accumulation of glucocerebroside in the mononuclear phagocyte system?

A

Gaucher disease

22
Q

A deficiency of muscle phosphorylase leading to accumulation of glycogen in skeletal muscle?

A

Type IV Glycogen Storage Disease- McArdle Syndrome

23
Q

What is deficient in Type III-GSD or Cori Disease?

A

Debranching enzyme, amylo-1,6-glucosidase

24
Q

A condition caused by any defect in the protein that make up the branched-chain alpha-keto acid dehydrogenase complex?

A

Maple Syrup Urine Disease

25
Q

What enzyme is defective in Phenylketonuria?

A

Phenylalanine hydroxylase

26
Q

What is responsible for the musty or mousy odor in patients with PKU?

A

Phenylacetic acid

27
Q

A deletion of three nucleotides coding for Phenylalanine amino acid postition 508 (🔼F508 producing a defective CFTR for chloride?

A

Cystic Fibrosis

28
Q

Most common etiologic agent of respiratory infections in cystic fibrosis?

A

Pseudomonas aeruginosa

29
Q

Most common cause of death in infants less than 1 yo?

A

Sudden Infant Death Syndrome

30
Q

What is the most common morphologic finding in infants who died from SIDS?

A

Multiple Petechiae

Patho (9 decks)

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