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NBS Pathology- additional Roecker info > Genetic and congenital disorders > Flashcards

Genetic and congenital disorders Flashcards

1
Q

What is trisomy 21 disorder?

A

Down syndrome- MC chromosomal disorder (1:700)

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2
Q

What are the symptoms of trisomy 21 disorder?

A

Mental retardation, flat face, cardiac malformations, Alzheimer’s; avg. age of death- 47

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3
Q

What is trisomy 18 disorder?

A

Edwards syndrome

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4
Q

What are the sx of Edwards syndrome?

A

Mental retardation, growth delays, failure to thrive, kidney, GI and cardiac malformations (septal defects); rarely survive past 10 years

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5
Q

What is trisomy 13 disorder?

A

Patau syndrome

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6
Q

What are the sx of patau syndrome?

A

Mental retardation, microcephaly, cardiac and renal malformations; rarely survive past 1

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7
Q

Which disorder is a fragmentation of chromosome 5 (sporadic mutation)?

A

Cri du chat

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8
Q

What are the sx of cri du chat?

A

Cat like cry, dysfunction: cognition, speech, motor, drooling, poor suckling

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9
Q

What chromosomal disorder is klinefelter?

A

XXY; phenotypically male; MC cause of male sterility

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10
Q

Which disorder is a loss of 1 X chromosome, typically 45X?

A

Turner syndrome; phenotypically female

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11
Q

What are the sx of Turner syndrome?

A

Androgynous appearance, short, amenorrhea, neck webbing, cardiovascular malformations

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12
Q

What is the genetic inheritance of fragile X?

A

Grandfathers to grandsons through daughters, triplet repeat mutation

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13
Q

What are the sx of Fragile X?

A

Familial mental retardation, elongated face, everted ears,

Macroorchidism (large testes)

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14
Q

What are the 5 need to know lysosomal storage diseases?

A

Tay-Sachs
Niemann-Pick A,B,C
Gaucher Disease
Mucopolysaccharidosis

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15
Q

which disease is the inability to metabolize GM2 gangliosides leading to cherry red macula, mental retardation and blindness? Common in Ashkenazi Jews

A

Tay-Sachs disease; lethal by age 3

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16
Q

which disease is caused by acid sphingomyelinase deficiency and fatal by age 3?

A

niemann-pick type A & B

17
Q

which Niemann-Pick is associated with defective lipid transport, more common and can have cognitive and motor deficits?

A

Niemann-Pick type C

18
Q

which disease is caused by a glucocerebrosidase gene mutation?

A

Gaucher disease- gaucher cells in liver erlenmeyer flask deformity*

19
Q

which disease is caused by a group of ECM breakdown enzymes and is characterized with course facial features, clouding of cornea and cardiovascular disease?

A

Mucopolysaccharoidosis

20
Q

What are the 3 need to know glycogen storage disease?

A

Von Gierke
McArdle
Pompe

21
Q

Which is the most common GSD, is a hepatic type and causes hepatomegaly and hypoglycemia?

A

Von Gierke disease

22
Q

Which GSD is a myopathic type causing muscle cramps and hypoglycemia?

A

McArdle disease

23
Q

which GSD affects all tissues and causes lethal cardiomyopathy?

A

Pompe disease

24
Q

Which metabolic disease causes copper accumulation in tissues, may cause liver failure and has the characteristic Kayser-Fleisher ring around the iris?

A

Wilson’s disease- confusion, coma, trauma

25
Q

what does the acronym for perinatal infections stand for? TORCH

A 
Toxoplasmosis 
Other (treponema pallidum, HIV, plasmodium falciparum)
Rubella
Cytomegalovirus
Herpes
26
Q

which congenital disorder is a hyaline membrane disease d/t prematurity and insufficient pulmonary surfactant?

A

NRDS

neonatal respiratory distress syndrome

27
Q

what is fetal hydrops and what are the 2 types?

A

abnormal accumulation of fluid in 2 or more fetal compartments; 2 types: immune and non-immune

28
Q

which hydrops is antibody-induced, from a maternal-fetal blood incompatibility and rare?

A

immune hydrops

29
Q

which hydrops is associated with Turner syndrome and has edema associated with chromosomal abnormalities?

A

non immune hydrops

30
Q

which disorder is caused by a fibrillin gene mutation causing a defective ECM and has characteristics such as slender long arms, pectus deformation (chest wall) arachnodactyly (spider fingers) hypermobility and dissecting aortic aneurysm?

A

Marfans Syndrome- fibrillin

31
Q

which pediatric tumor has characteristic Homer wright (pseudo) rosettes and “blueberry muffin baby”

A

neuroblastoma- neural crest cells; malignant

32
Q

what is the most common pediatric eye malignancy with an RB gene mutation and Flexner-Wintersteiner rosette?

A

retinoblastoma

33
Q

Homer-Wright (pseudo) rosette

A

neuroblastoma

34
Q

Flexor-Wintersteiner rosette

A

retinoblastoma

35
Q

what is another name for nephroblastoma?

A

Wilms tumor

36
Q

what is the most common tumor in infancy? port wine stain?

A

hemangioma

37
Q

what are the 4 seronegative spondyloarthopathies that are positive for HLA-B27?

A

psoriatic arthritis
enteropathic arthritis
ankylosing spondylitis
Reiters(reactive) arthritis

38
Q

what is enteropathic arthritis associated with?

A

ulcerative colitis or shigellosis

NBS Pathology- additional Roecker info (4 decks)

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