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Flashcards in 7 Genetic and Pedia Deck (128):
2

These disorders are derived from one's parents, transmitted through gametes through the generations, and are therefore familial.

Hereditary disorders(TOPNOTCH)

3

This term literally means "present at birth".

Congenital(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

4

This term refers to permanent changes in the DNA.

Mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

5

This type of mutation results from the substitution of a single nucleotide base by a different base, resulting in the replacement of one amino acid by another.

Missense mutation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

6

This type of mutation results in the replacement of one amino acid by a stop codon, resulting in chain termination.

Nonsense mutation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

7

Missense, nonsense and silent mutations are examples of ________ mutations, wherein only one base pair is replaced.

Point mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

8

This type of mutation occur when the insertion or deletion of one or two bse pairs alters the reading frame of the DNA strand.

Frameshift mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

9

These mutations are characterized by amplification of a sequence of three nucleotides.

Trinucleotide repeat mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

10

Disease characterized by CGG trinucleotide repeats.

Fragile X Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

11

This is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems.

Huntington's disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

12

Genetic mutation in Huntington's disease?

CAG trinucleotide repeats(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

13

This disorder is a chronic, slowly progressing inherited genetic disorder characterized by muscle wasting, cataracts, heart conduction defects, endocrine changes and myotonia.

Myotonic Dystrophy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

14

Genetic mutation found in myotonic dystrophy?

CTG Trinucleotide repeats(TOPNOTCH)

15

A point mutation wherein a single base pair is replaced but codes for the same amino acid, therefore has no effect on the functioning of the protein.

Silent mutation(TOPNOTCH)

16

An example of point mutation wherein a purine base is replaced by another purine base or a pyrimidine base is replaced by another pyrimidine base.

Transition(TOPNOTCH)

17

A point mutation wherein a purine is replaced by a pyrimidine or vice versa.

Transversion(TOPNOTCH)

18

Diseases caused by single gene defects are called?

Mendelian Disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

19

A condition wherein both dominant and recessive alleles of a gene pair may be fully expressed in the heterozygote.

Codominance(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

20

The presence of many allelic forms of a single gene is called _______.

Polymorphism(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

21

This occurs when one gene influences or leads to multiple phenotypic traits.

Pleiotropy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

22

A phenomenon wherein a single phenotype or genetic disorder may be caused by mutations of several genetic loci or allele.

Genetic heterogeneity Note: compare with pleiotropy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

23

A transmission pattern of inheritance which is manifested in the heterozygous state, wherein at least one parent of an index case is usually affected, both males and females are affected and both can transmit the condition.

Autosomal dominant (AD)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

24

This pattern of inheritance occur when BOTH of the alleles at a given gene locus are mutants, wherein the parents are not affected, but offspring have 1 in 4 chance (25%) of being affected.

Autosomal recessive(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

25

Pattern of inheritance wherein the disorder is transmitted by heterozygous female carriers only to 50% of the sons. An affected male does not transmit the disorder to sons but all daughters are carriers.

X-linked disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

26

An autosomal dominant disorder of connective tissues characterized by abnormally long legs, arms and fingers, joint hyperextensibility, pectus excavatum, lens subluxation and increased risk of aortic dissection.

Marfan Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230

27

Integral component of elastic fibers defective in Marfan Syndrome.

Fibrillin 1(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230

28

Fibrillin 1 is encoded by what gene?

FBN1 gene (chromosome 15q21)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230

29

A collection of disorders caused by defects in collagen synthesis or structure, characterized by hyperextensible skin and joint hypermobility, rupture of internal organs and poor wound healing.

Ehlers-Danlos SyndromesThere are 6 variants to Ehlers-Danlos (nice to know)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.231

30

This autosomal recessive inborn error of metabolism is characterized by inability to convert phenylalanine to tyrosine, strong mousy or musty odor of urine and sweat, decreased pigmentation of hair and skin, eczema, seizures and mental retardation.

Phenylketonuria (PKU)(TOPNOTCH)

31

This autosomal dominant disorder is caused by a mutation in the gene that specifies the receptor for LDL, impairing the intracellular transport and catabolism of LDL.

Familial hypercholesterolemia(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.232

32

Enzyme deficient in classic PKU.

Phenylalanine hydroxylase (PAH)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.234

33

An autosomal recessive disorder of galactose metabolism characterized by jaundice, liver damage, cataracts, neural damage, vomiting and diarrhea.

Galactosemia(TOPNOTCH)

34

Deficiency of this enzyme can also cause symptoms of phenylketonuria due to decreased synthesis of a cofactor in the conversion of phenylalanine to tyrosine.

Dihydrobiopteridine reductase (DHPR)Enzyme responsible for the reduction of Dihydrobiopterin (BH2) to Tetrahydrobiopterin (BH4).(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.234

35

Enzyme deficient in galactosemia.

Galactose-1-phosphate uridyltransferase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.235

36

Lysosomal storage disease due to deficiency of glucosylceramidase.

Gaucher disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

37

Lysosomal storage disease due to deficiency of B-Hexosaminidase A.

Tay-Sachs disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

38

Lysosomal storage disease due to deficiency of a-Galactosidase A.

Fabry disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

39

Lysosomal storage disease due to deficiency of Sphingomyelinase.

Niemann-Pick disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

40

Lysosomal storage disease common among Ashkenazi Jews characterized by motor weakness, mental retardation, blindness, neurologic dysfunction and death.

Tay-Sachs disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

41

Lysosomal storage disease characterized by accumulation of glucosylceramide in mononuclear phagocytic cells, which enlarge, forming "wrinkled tissue paper" cytoplasmic appearance.

Gaucher disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.238

42

What do you call the pathognomonic cell characterized by "wrinkled tissue paper" cytoplasmic appearance.

Gaucher cell(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.238

43

These disorders result from the accumulation of mucopolysaccharides in many tissues including the liver, spleen, heart, blood vessels, brain, cornea and joints. Affected patients have coarse facial features.

Mucopolysaccharidoses(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.238

44

Mucopolysaccharidosis characterized by corneal clouding, coronary arterial and valvular depositions, which occurs due to deficiency of a-L-iduronidase, leading to accumulation of dermatan and heparan sulfate.

Hurler syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.239

45

An X-linked mucopolysaccharidosis which is due to a deficiency of L-iduronate sulfatase. Symptoms are similar to Hurler sundrome, but without corneal clouding.

Hunter syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.239

46

Glycogen storage disease characterized by hepatomegaly, renomegaly, hypoglycemia, hyperlipidemia and hyperuricemia, leading to gout and skin xanthomas.

von Gierke's disease (Type I)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

47

von Gierke's disease is due to a deficiency of what enzyme?

Glucose-6-phosphatase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

48

Glycogen storage disease characterized by accumulation of glycogen in skeletal muscles leading to painful cramps during strenuous exercise and myoglobinuria.

McArdle syndrome (type V)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

49

Glycogen storage disease characterized by mild hepatomegaly, cardiomegaly, muscle hypotonia, and may lead to cardiorespiratory failure.

Pompe disease (type II)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

50

Enzyme deficient in McArdle syndrome.

Muscle phosphorylase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

51

These disorders may result from alterations in the number or structure of chromosomes and may affect autosomes or sex chromosomes.

Cytogenetic disorders(TOPNOTCH)

52

These disorders may result from alterations in the number or structure of chromosomes and may affect autosomes or sex chromosomes.

Cytogenetic disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.241

53

It is a term used to describe the presence of two or more populations of cells in the same individual.

Mosaicism(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.242

54

This refers to a lack of one chromosome of the normal complement (e.g. XO).

Monosomy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

55

This refers to the presence of three copies of a particular chromosome, instead of two.

Trisomy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

56

This mechanism occurs due to the failure of chromosome pairs to separate properly during meiosis stage 1 or 2.

Nondisjunction(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243

57

This mechanism implies transfer of a part of one chromosome to another chromosome.

Translocation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243

58

This mechanism involves loss of a portion of a chromosome.

Deletion(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243

59

Patients with this syndrome have severe mental retardation, flat facial profile, epicanthic folds, cardiac malformations, increased risk of leukemia, and premature development of Alzheimer's disease.

Down syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

60

Down syndrome is also called _________

Trisomy 21(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

61

Trisomy 18 is also called ________ syndrome.

Edwards syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

62

Trisomy 13 is also called _________ syndrome.

Patau syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

63

Syndrome characterized by a prominent occiput, low set ears, micrognathia, rocker-bottom feet, renal malformation, mental retardation and heart defects.

Edwards syndrome / trisomy 18(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

64

Syndrome characterized by mental retardation, microcephaly, micropthalmia, polydactyly, cleft lip and palate, cardiac and renal defects, umbillical hernia and rocker-bottom feet.

Patau syndrome/Trisomy 13(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

65

Syndrome characterized by thymic hypoplasia with diminished T-cell immunity and parathyroid hypoplasia with hypocalcemia.

DiGeorge syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

66

Syndrome characterized by congenital heart disease affecting outflow tracts, facial dysmorphism and developmenta delay.

Velocardiofacial syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

67

Deletion of genes from this chromosome gives rise to DiGeorge and velocardiofacial syndromes.

22q11.2Remember mnemonic CATCH22(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

68

The q from 22q11.2 refers to ________.

"Long arm" of chromosome 22.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

69

Syndrome defined as male hypogonadism that develops when there are at least two X chromosomes and one or more Y chromosomes.

Klinefelter syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

70

Syndrome manifested by a eunochoid body habitus, reduced facial, body and pubic hair, gynecomastia, testicular atrophy, decreased serum testorerone and incresed urinary gonadotropin levels. It is the most common cause of hypogonadism in males.

Klinefelter syndrome (TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

71

Most common chromosomal derangement in Klinefelter syndrome.

47XXY(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

72

Syndrome which results from the partial or complete monosomy of the short arm of the X chromosome.

Turner syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.247

73

Inheritance associated with mitochondrial DNA.

Maternal inheritance(TOPNOTCH)

74

Neurodegenerative disease which manifests as progressive bilateral loss of central vision that leads to blindness. This is the prototypical disorder of mutations in mitochondrial genes.

Leber hereditary optic neuropathy(TOPNOTCH)

75

Inheritance associated with mitochondrial DNA.

Maternal inheritance(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.247

76

An epigenetic process wherein certain genes are differentially "inactivated" during paternal and maternal gametogenesis.

Genomic imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.252

77

This refers to transcriptional silencing of the maternal allele.

Maternal imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

78

Refers to the transcriptional silencing of the paternal allele.

Paternal imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

79

Syndrome characterized by mental retardation, short stature, hypotonia, obesity, small hands and feet, and hypogonadism. Paternal imprinting.

Prader-Willi syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

80

Syndrome manifested as mental retardation, ataxic gait, seizures and inappropriate laughter. Also called the "happy puppet syndrome". Maternal imprinting.

Angelman syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

81

These represent primary errors of morphogenesis due to an intrinsically abnormal developmental process.

Malformations(TOPNOTCH)

82

These represent primary errors of morphogenesis due to an intrinsically abnormal developmental process.

Malformations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

83

These result from secondary destruction of an organ or body region that was previously normal in development, due to an extrinsic disturbance in morphogenesis.

Disruptions(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

84

These are due to generalized compression of the growing fetus by abnormal biomechanical forces, for example uterine constraint.

Deformations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

85

This refers to multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis. The initiating event may be a malformation, deformation or disruption.

Sequence(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

86

This refers to the presence of several defects that cannot be explained on the basis of a single localizing initiating error in morphogenesis.

Malformation syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.253

87

Elements of the TORCH complex.

TOxoplasmaTreponema pallidumRubellaCytomeglovirusHerpesvirus(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.256

88

Most common cause of neonatal mortality.

Congenital anomalies(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.253

89

Second most common cause of neonatal mortality.

Prematurity(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

90

Lungs of infants with this disease are normal size but are heavy and relatively airless. They have a mottled purple color, with poorly developed atelectatic alveoli.

Neonatal Respiratory Distress Syndrome / Hyaline Membrane Disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

91

Characteristic eosinophilic membranes line the respiratory bronchioles, alveolar ducts and random alveoli, which contain necrotic epithelial cells admixed with extravasated plasma proteins.

Hyaline Membrane Disease / Neonatal RDS(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

92

Two well known complications of high concentration ventilator administered oxygen in infants suffering from RDS.

Retrolental fibroplasia / retinopathy of prematurityBronchopulmonary dysplasia(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

93

Characteristic lesion in the retina of infants suffering from retrolental fibroplasia?

Neovascularization or retinal vessel proliferation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

94

Main component of pulmonary surfactant.

Dipalmitoylphosphatidylcholine (DPPC) ~40%

95

Characteristic abnormality in bronchopulmonary dysplasia?

Alveolar hypoplasia or a decrease in the number of mature alveoli.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

96

What is the fundamental abnormality in neonatal RDS?

Insufficient pulmonary surfactant(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

97

This condition occurs more commonly in very-low-birth-weight infants, as a result of intestinal ischemia, bacterial colonization of gut and formula milk feeding.

Necrotizing enterocolitis (TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

98

Microscopic features of NEC.

Presence of submucosal gas bubbles, transmural coagulative necrosis, ulceration and bacterial colonization.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.259

99

Defined as the sudden death of an infant under 1 year of age which remains unexplained after a thorough investigation.

Sudden Infant Death Syndrome / SIDS(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.260

100

Multiple petechiae of the thymus, visceral and parietal pleura and epicardium, congested lungs with vascular engorgement with or without pulmonary edema.

Sudden Infant Death Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.260

101

Results from antibody-induced hemolytic disease in the nnewborn that is caused by blood group incompatibility between mother and fetus, leading to edema fluid accumulation.

Immune Hydrops(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261

102

Erythroid precursors with large homogenous, intranuclear inclusions and a surrounding peripheral rim of residual chromatin can be seen in the bone marrow aspirate of an infant infected with this virus. This leads to development of non-immune hydrops.

Parvovirus B19(TOPNOTCH)

103

Isolated postnuchal fluid accumulation in fetuses with hydrops.

Cystic hygroma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261

104

A lethal condition characterized by generalized edema of the fetus.

Hydrops fetalis(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261

105

Increased hematopoietic activity leading to the presence of large number of immature red cells, including reticulocytes, normoblasts and erythroblasts. Characteristic finding in fetal anemia-associted hydrops.

Erythroblastosis fetalis(TOPNOTCH)

106

Primary gene defect in cystic fibrosis.

Abnormal CFTR (CF transmembrane conductance regulator) Chromosome 7q31.2(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.262

107

Lungs with extensive mucous plugging and dilated tracheobronchial tree. Pancreatic ducts dilated and plugged with eosinophilic mucin, atrophic parenchymal glands replaced by fibrous tissue. Hepatic steatosis, Azoospermia and infertility are some of the features of this disease.

Cystic fibrosis(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.262

108

Patients with cystic fibrosis are prone to developing infections caused by these three organisms.

S. aureusH. InfluenzaeP. aeruginosa(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.266

109

How is cystic fibrosis diagnosed?

Persistently elevated sweat chloride concentration(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

110

Most common tumors of infancy.

Hemangioma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

111

Microscopically normal cells or tissues that are present in abnormal locations.

Heterotopia or choristoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

112

Port wine stains are associted with these syndromes. (2)

von Hippel-Lindau Sturge-Weber syndromes(TOPNOTCH

113

This refers to an excessive but focal overgrowth of cells and tissues native to the organ in which it occurs.

Hamartoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

114

Large, flat to elevated, irregular, red-blue masses in the skin.

Port wine stains(Large hemangiomas)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

115

These represent the lymphatic counterpart of hemangiomas characterized as cystic and cavernous spaces lined by endothelial cells and surrounded by lymphoid aggregates,usually containing pale fluid.

Lymphangiomas(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.268

116

What do you call the rosettes found in neuroblastomas?

Homer-Wright pseudorosettes(TOPNOTCH)

117

Most common germ cell tumors of childhood,associated with meningocoele and spina bifida.

Sacrococcygeal teratomas(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.268

118

Tumor of the adrenal medulla composed of small, primitive-appearing cells with dark nuclei, scant cytoplasm, and poorly defined cell borders growing in solid sheets within a finely fibrillar matrix. Rosettes can be found in which tumor cells are concentrically arranged about a CENTRAL SPACE FILLED with neuropil.

Neuroblastomas(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.269

119

This is used in the screening of patients with neuroblastoma.

Urinary vanillylmandelic acid and homovanillic acid (VMA/HVA)(TOPNOTCH)

120

Differentiated lesions containing more large cells with vesicular nuclei and abundant eoinophilic cytoplasm, in the absence of neuroblasts, usually accompanied by mature spindle shaped Schwann cells.

Ganglioneuroma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.270

121

Disseminated neuroblastoma with multiple cuteaneous metastases with deep blue discoloration to the skin.

"Blueberry muffin baby"(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.270

122

This tumor is composed of small, round cells with large hyperchromatic nuclei and scant cytoplasm, with characteristic structures consisting of clusters of cuboidal or short columnar cells arranged around a CENTRAL LUMEN. The nuclei are displaced away from the lumen, which appears to have a limiting membrane.

Retinoblastoma(Differentiate with neuroblastoma)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

123

Rosettes in retinoblastoma are called _______.

Flexner-Wintersteiner rosettes(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

124

Clinicial findings include poor vision, strabismus, whitish hue to the pupils ("cat's eye reflex"), pain and tenderness to the eye.

Retinoblastoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

125

Most common primary tumor of the kidney in children.

Wilm's tumor / Nephroblastoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

126

Components of the WAGR syndrome.

Wilm's tumorAniridiaGenital abnormalitiesMental retardation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

127

Presents grossly as a large, solitary, well-circumscribed mass. On cut-section, tumor is soft, homogenous, and tan to gray, with occasional foci of hemorrhage, cystic degeneration and necrosis.

Wilm's tumor(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

128

Microscopically, a combination of blastemal, stromal and epithelial cell types is observed. (Triphasic combination) Blastemal components described as sheets of small blue cells with few distinctive features. Stromal cells are fibrocytic or myxoid in nature. Epithelial cells take the form of abortive tubules or glomeruli.

Wilm's tumor(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

129

Associated with inactivation of the WT1 gene of chromosome 11p13.

WAGR syndrome and Denys-Drash syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272