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Flashcards in Genetic Disorders Deck (24)
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1
Q

___ is the proportion of those who inherit the gene and express its phenotype

A

penetrance

2
Q

____ is the variability in phenotypic expression among those who inherit the gene

A

expressivity

3
Q

[AD]

Tall stature, bilateral ectopia lentis, mitral valve prolapse, aortic aneurysm, hyperextensible joints

A

Marfan Syndrome

Fibrillin-1

4
Q

[AD]
corneal rupture, retinal detachment, rupture of colon and large arteries, diaphragmatic hernia, hyperextensible skin, hypermobile joints

A

Ehler-danlos syndrome

Fibrillar collagen defect

5
Q

____ disorders are noted to have complete penetrance and early onset and usually, enzyme defects

A

autosomal recessive disorders

6
Q

[AR]
Neurons are ballooned with cytoplasmic vacuoles with gangliosides (+) for oil red O, sudan black B, onion-skin configuration, (+) MR

Retina: (+) cherry-red spot, distended ganglion cells

NO Hepatosplenomegaly

A

Tay-Sachs disease

defect in hexominidase A leading to accumulation of GM2

7
Q

[AR]
cherry red spot in macula, hepatosplenomegaly, membranois inclusion of lamellated figures

(+) foam cells

A

Nieman-Pick Disease (Type A and B)

Sphingomyelinase deficiency

8
Q

[AR]
MR, erosion of long bones, hepatosplenomegaly,

crumpled tissue paper apperance (fibrillary cytoplasm), distended phagocytic cells in spleen, liver, BM, LN, tonsils, thymus, peyer patches

A

Gaucher disease

  • most common,
  • glucocerebrosidase deficiency (beta-glucosidase)
9
Q

All daughters are carriers, father doesnt transmit the disease to their sons, females may express the phenotype due to random inactivation of one chromosome

A

X-linked recessive disorder

10
Q

Give 2 examples of x-linked dominant disorders

A

Alport Syndrome, Vitamin D resistant rickets

11
Q

Failure of homologous chromosomes to separate during cell division

A

non-disjunction

12
Q

Trisomy 21 and Turner Syndrome are examples of post-fertilization error which is called

A

Mosaicism

13
Q

Most commonly associated cardiac anomaly in Trisomy 21

A

Endocardial cushion defect

14
Q

Trisomy 21 is most commonly associated with what type of leukemia

A

AML

15
Q

Prominent occiput, micrognathia, low set ears, short neck, overlapping fingers, congenital heart defect, renal malformations, limited hip abduction, rocker bottom feet

A

Trisomy 18: Edwards

16
Q

Microcephaly, micropthalmia, polydactyl, cleft lip and palate, cardiac defects, umbilical hernia, renal defect, rocker bottom feet

A

Trisomy 13: Patau

17
Q

Cardiac anomaly, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia, high risk for schizophrenia and bipolar disorder

A

Di George Syndrome: 22q11.2 deletion

18
Q

Eunochoid body habitus, testicular atrophy, micropenis, absent secondary sex characteristics, MVP, gynecomastia, T2Dm, metabolic synrome

A

Klinefelter: 47 XXY

Calvin Klein’s exes

19
Q

Short stature, no neck, cystic hygromas of the neck, preductal CoA, bicuspid aortic valve

A

Turner 45XO

Tina Turner is 45

20
Q

Genotypically male, phenotypically female

A

Androgen Insensitivity Syndrome

21
Q

MR, Long face, large mandible, large everted ears, macro-orchidism, CGG expansion in FMR1 gene

A

Fragile X, mutations may cause loss of function

22
Q

progressive movement disorders, dementia due to degeneration of striatal neurons

CAG expansion of Ch 4

A

Huntington Disease

23
Q

deletion in Paternally derived chromosome 15

A

Prader-Willi Syndrome

24
Q

deletion in maternally derived chromosome 15

A

Angelman Syndrome