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Flashcards in VII - Genetic and Pediatric Diseases Deck (184)
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Rosettes in retinoblastoma are called _______.

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


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


Most common primary tumor of the kidney in children.

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


Components of the WAGR syndrome.

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


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


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


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

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


Patient presents with mental retardation, motor incoordination, and blindness. Ophthalmologic exam showeed cherry-red spots on the macula. Brain showed neurons ballooned with cytoplasmic vacuoles. What is the enzyme deficiency?

Hexosaminidase A. (Case of Tay-Sachs Disease) (TOPNOTCH)


An 18 y/o male was recently diagnosed with a genetic disorder. His parents do not manifest the disease, but one of his parent carries the gene with phenotypic expression. Some of his relatives manifest the same disease but with different presentation. What type of Mendelian disorder does the patient most likely have?

Autosomal dominant disorder. With this type, some patient do not have affected parents, has variations in penetrance and expressivity, age at onset is delayed. (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 140


True or False. Male patient with hemophilia does not transmit the disorder to his sons, but all daughters are carriers.

True. Hemophilia is an X-linked disorder. (TOPNOTCH)


True or False. Female hemophilia carrier will transmit the disease to half her sons and half her daughter.

False. X-linked disorders are transmitted by heterozygous females to their sons, who manifest the disease. (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 142


True or False. Female hemophilia carrier will manifest with decrease Factor VIII.



True or False. In female hemophilia carrier, only one of the X chromosome shows abnormality.



True or False. In X-linked disorders, female carriers are usually protected because of random inactivation of one X chromosome.



True or False. In X-linked disorders, heterozygous female carrier will never manifest the disease.



A 26 y/o male was referred to a cardiologist due to presence of murmur at the aortic area. On history, patient suffered from severe myopia at the age of 6. His development was normal except that he was taller than the rest of his family members and friends. Examination of abdomen showed visible pulsation above the umbilicus. The most striking feature in this syndrome is:

Skeletal abnormalities. (case of Marfan Syndrome) (TOPNOTCH)


The most life-threatening feature of Marfan syndrome

Cardiovascular lesions (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 145


The 2 most common lesions of Marfan Syndrome

Mitral valve prolapse and dilation of ascending aorta (TOPNOTCH) Robbins Basic Pathology, 9th ed, p. 145


A 4 y/o male presented with cutaneous xanthomas on the extensor surfaces of his arms, knees, and elbow since he was 1 year old. He was found to have serum cholesterol greater than 1000 mg/dl and triglyceride level of 170 mg/dl. Both parents had high cholesterol levels. What is the cause of hypercholesterolemia in this condition?

Impared transport of LDL into the cells (Case of Familial Hypercholesterolemia) (TOPNOTCH)


A 6 mo old infant presented with failure to thrive, vomiting, fever, and hepatosplenomegaly. Progressive deterioration of the infant led to death. Autopsy finding showed lipid laden phagocytic foam cells widely distributed in the spleen, liver, lymph nodes, GIT and lungs. Tissue cells are enlarged, with innumerable vacuoles staining for fat, and lysosome contain concentric lamellated myelin figures. The patient is deficient of what enzyme?

Sphingomyelinase (case of Niemann-Pick Disease Type A) (TOPNOTCH)


A 1 y/o infant succumbed to death. Autopsy finding showed shrunken gyri and widened sulci. There is vacuolation and ballooning of neurons noted. Cells are enlarged with innumerable small vacuoles of uniform size, imparting foaminess to the cytoplasm. This is a case of:

Niemann-Pick Disease (TOPNOTCH)


Presents with fractures, bone pain and thrombocytopenia. Morphologic findings of distended phagocytic cells and have fibrillary type of cytoplasm, intensely positive for PAS staining.

Gaucher disease (TOPNOTCH)


A 21 y/o female of short stature presented with primary amenorrhea, shield-shaped chest, "thick neck", and absence of secondary female characteristics. Estrogen level were decreased, while FSH and LH are increased. What is the most likely diagnosis?

Turner syndrome (TOPNOTCH)


The most common chromosomal disorder

Down Syndrome(TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 161


The most common genetic cause of mental retardation.

Down Syndrome(TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 161


Most common pathogenesis of Trisomy 21

Meiotic nondisjunction (TOPNOTCH)


Most common congenital heart defects in Trisomy 21

Endocardial cushion defects(TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 163


Why are patients with DiGeorge syndrome has T-cell immunodeficiency?

Because of thymic hypoplasia (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 163


A 14 y/o male presented with gynecomastia and small testes. He was noted to have difficulties in school when he was 8. He was tall for his age. You would suspect:

Klinefelter syndrome (TOPNOTCH)


Classic karyotype patttern of Klinefelter syndrome