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