Term
| What can you use at end of 1st and 2nd semesters to diagnose Down's ? |
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Definition
End of 1st semester - Ultrasound
End of 2nd semester - Karyotype / FISH |
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Term
| The Hirano bodies in Alzheimer's disease are made of what ? |
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Definition
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Term
| What one part of heart is from ectoderm neural crest ? |
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Definition
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Term
| What type AML is seen in babies with Down's Syndrome ? |
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Definition
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Term
| Non-bilious projectile vomiting and olive like mass indicates ? |
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Definition
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Term
| What things are increased in Trisomy 21 Down Syndrome ? |
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Definition
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Term
| What are unique clinical findings in Trisomy 18 ? |
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Definition
Rocker-bottom feet (loss or arches or rounding of feet)
Overlapping flexed fingers
Horseshoe kidneys |
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Term
| Unique clinical features of Trisomy 13 (Patau Syndrome) ? |
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Definition
Polydactyly
Cleft lip / palate
Holoprosencephaly |
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Term
| Cri du Chat syndrome is due to |
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Definition
"deletion" on Chromosome 5p
Congenital heart defect usually seen is VSD |
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Term
| Turner's Syndrome patients are at risk for what cancer ? |
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Definition
Ovarian cancer
But if mosaic, then at risk for Gonadoblastoma |
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Term
| In Female Pseudohermaphroditism, it is ? |
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Definition
| Female inside and Male outside |
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Term
| Complete androgen insensitivity syndrome is due to ? |
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Definition
| Mutation of the androgen receptor (Xq11-12) ? |
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Term
| What is the CFTR gene in CF ? |
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Definition
A chloride channel that uses cAMP
This gene is located on chromosome 7 |
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Term
| Most common cause of bronchiectasis in USA ? |
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Definition
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Term
| What vitamin deficiencies are present in CF ? |
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Definition
Deficiency of fat-soluble vitamins (A, D, E, K)
B12 deficiencey (get Megaloblastic anemia) |
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Term
| What becomes essential amino acid in PKU ? |
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Definition
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Term
| Alkaptonuria (or Ochronosis) can lead to what bone problem ? |
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Definition
| Predisposes to early onset degenrative arthritis in a young patient |
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Term
| "Macule is pale with still-red fovea" describes ? |
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Definition
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Term
| What are Monroe's abscesses ? |
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Definition
| Present in psoriasis. Growth increased by TH17 which stimulates IL-17 |
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Term
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Definition
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Term
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Definition
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Term
| Treatment for Psoriasis ? |
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Definition
If mild, Psorelen with UVA light (PUVA)
If severe, give Methotrexate |
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Term
| The deficient enzymes in Tay-Sachs disease and Niemann-Pick disease are what types of disease ? |
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Definition
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Term
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Definition
| Mutation in fibrillin gene (FBN1), it is a dominant-negative mutation |
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Term
| The bilateral subluxation of the lens is in what direction ? |
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Definition
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Term
| Ehlers Danlos Type 4 is an autosomal defect in ? |
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Definition
Type 3 collages.
Uterus and other organs can rupture |
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Term
| What occurs in Menke's Kinky Hair Syndrome ? |
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Definition
X-linked recessive mutation in copper-binding protein
Low levels of ceruloplasmin and serum copper
Low activity of lysyl oxidase |
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Term
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Definition
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Term
| The NF-1 (neurofibromin) gene inhibits what ? |
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Definition
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Term
| What variant of neurofibromas in Type 1 Neurofibromatosis are diagnostic ? |
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Definition
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Term
| What is the name of the gene product in NF-2 ? |
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Definition
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Term
| Clinical signs of von Hippel-Lindau disease ? |
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Definition
| Polycythemia, cranial mass, bilateral renal cell carcinomas, pheochromocytoma |
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Term
| What is only disease at birth that gives bilateral macroorchidism ? |
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Definition
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Term
| Most common heart defect in Fragile X and Marfan's ? |
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Definition
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Term
| The abnormal huntingtin protein in Huntington's is on what chromosome ? |
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Definition
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Term
| What brain structure atrophies in Huntington's ? |
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Definition
| Caudate nucleus. See spiny neurons which use GABA |
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Term
| What is Prader-Willi Syndrome ? |
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Definition
Is a microdeletion on paternal chromosome 15 or due to maternal uniparental disomy
Dad's gene is deleted
Mom's gene is methylated (imprinted) |
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