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Flashcards in Genetic Disorders Deck (24)
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1

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

penetrance

2

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

expressivity

3

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

Marfan Syndrome
Fibrillin-1

4

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

Ehler-danlos syndrome
Fibrillar collagen defect

5

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

autosomal recessive disorders

6

[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

Tay-Sachs disease

defect in hexominidase A leading to accumulation of GM2

7

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

(+) foam cells

Nieman-Pick Disease (Type A and B)

Sphingomyelinase deficiency

8

[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

Gaucher disease
- most common,
- glucocerebrosidase deficiency (beta-glucosidase)

9

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

X-linked recessive disorder

10

Give 2 examples of x-linked dominant disorders

Alport Syndrome, Vitamin D resistant rickets

11

Failure of homologous chromosomes to separate during cell division

non-disjunction

12

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

Mosaicism

13

Most commonly associated cardiac anomaly in Trisomy 21

Endocardial cushion defect

14

Trisomy 21 is most commonly associated with what type of leukemia

AML

15

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

Trisomy 18: Edwards

16

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

Trisomy 13: Patau

17

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

Di George Syndrome: 22q11.2 deletion

18

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

Klinefelter: 47 XXY

Calvin Klein's exes

19

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

Turner 45XO

Tina Turner is 45

20

Genotypically male, phenotypically female

Androgen Insensitivity Syndrome

21

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

Fragile X, mutations may cause loss of function

22

progressive movement disorders, dementia due to degeneration of striatal neurons

CAG expansion of Ch 4

Huntington Disease

23

deletion in Paternally derived chromosome 15

Prader-Willi Syndrome

24

deletion in maternally derived chromosome 15

Angelman Syndrome