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57 Cards in this Set

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  • Back
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