Genetic Diseases I
Terms
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- At what point is an amniocentesis performed?
- 18 weeks
- What are the two ways that the cells from an amniocentesis can be analyzed?
-
1. Cell culture - frowned upon
2. FISH - Clinodactyly
- Down Syndrome
- Sandal Toe deformity
- Down Syndrome
- Hypotonia
- Down Syndrome
- Central obesity
- Down Syndrome
- Predisposition to infections, AZ disease and leukemia.
- Down Syndrome
- Umbilical hernia
- Down Syndrome
- Duodenal atresia
- Down Syndrome
- Short metacarpals
- Down Syndrome
- Complete atrioventricular canal valve (CAV)
- Down Syndrome
- Hypoplastic teeth
- Down Syndrome
- Brushfield spots
- Down Syndrome
- Near-sighted
- Down Syndrome
- Overlap of the fingers
- Edward's Syndrome
- Rockerbottom feet
- Edward's Syndrome and Patau Syndrome
- Triangular face
- Edward's Syndrome
- Radial aplasia
- Edward's Syndrome
- Short sternum
- Edward's Syndrome
- Vertebral anomalies
- Edward's Syndrome and Patau Syndrome
- Horseshoe kidney
- Edward's Syndrome and Turner syndrome
- Holoprosencephaly
- Patau Syndrome and Triploidy
- Cleft lip and/or palate
- Patau Syndrome and Triploidy
- Microphthalmia
- Patau Syndrome
- Colobomata
- Patau Syndrome
- Retinal dysplasia
- Patau Syndrome
- Scalp defects
- Patau Syndrome
- Polydactyly
- Patau Syndrome
- Malformation of the kidneys
- Patau Syndrome
- Very large head in comparison to the body
- Triploidy
- Small jaws
- Triploidy
- Syndactyly
- Triploidy
- Webbed neck
- Turner's syndrome
- Broad shield chest
- Turner's syndrome
- Inverted nipples
- Turner's syndrome
- Wide-spaced eyes (hypertelorism)
- Turner's syndrome
- Cutis laxa
- Turner's syndrome
- Lymphadema
- Turner's syndrome
- Streak ovaries
- Turner's syndrome
- Coarctation of the aorta
- Turner's syndrome
- Puffy dorsum of the hands
- Turner's syndrome
- Fine intention tremor
- Klinefleter Syndrome
- Increased risk of germ cell tumor
- Klinefleter Syndrome
- Gynocomastia
- Klinefleter Syndrome
- Sparse male pattern of hair
- Klinefleter Syndrome
- When is the onset of autosomal dominant traits?
- Late onset
- What is diagnosed by 6 cafe au lait spots all 1.5cm or larger?
- Neurofibromatosis I
- Axillary freckles
- Neurofibromatosis I
- Plexiform lesions
- Neurofibromatosis I
- Optic gliomas
- Neurofibromatosis I and II
- Ependymomas/meningiomas
- Neurofibromatosis I and II
- Unilateral acoustic neuromas
- Neurofibromatosis I
- Lisch nodules
- Neurofibromatosis I
- Bilateral acoustic neuromas
- Neurofibromatosis II
- Schwannomas of the dorsal roots of the spinal cord
- Neurofibromatosis II
- Blindess
- Neurofibromatosis II
- Nuchal hygroma
- Down Syndrome, Edward's Syndrome and Turner Syndrome