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Cytogenetics Review Questions (view source)
Revision as of 15:55, 5 August 2015
, 15:55, 5 August 2015→Miscellaneous
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{{hidden|What is the most common cause of triploidy?|Dispermy in 60%}} | {{hidden|What is the most common cause of triploidy?|Dispermy in 60%}} | ||
{{hidden|What is the recurrence risk for parents of Down's syndrome child with a "free chromosome"?|1%}} | {{hidden|What is the recurrence risk for parents of Down's syndrome child with a "free chromosome"?|1%}} | ||
{{hidden|List 5 features of Trisomy 8.| | {{hidden|List 5 features of Trisomy 8.| | ||
*1. Prominent cup-shaped ears | *1. Prominent cup-shaped ears | ||
| Line 225: | Line 226: | ||
*6. Joint abnormalities | *6. Joint abnormalities | ||
*7. Usually mosaic }} | *7. Usually mosaic }} | ||
{{hidden|List 5 features of Trisomy 9.|}} | |||
{{hidden|List 5 features of Trisomy 13.|}} | {{hidden|List 5 features of Trisomy 9.| | ||
{{hidden|List 5 features of Trisomy 14.|}} | *1. Growth deficiency (prenatal) | ||
{{hidden|List 5 features of Trisomy 18.|}} | *2. Deep-set eyes | ||
{{hidden|List 5 features of Trisomy 21.|}} | *3. Low-set, misshapen ears | ||
*4. Small lower jaw causes upper lip to overlap lower lip | |||
*5. Joint abnormalities | |||
*6. Heart and kidney abnormalities | |||
*7. Small genitalia (males) | |||
*8. Most have severe mental retardation | |||
*9. Usually mosaic}} | |||
{{hidden|List 5 features of Trisomy 13.| | |||
*1. Cleft lip and/or palate | |||
*2. Low set, misshapen ears | |||
*3. Small eyes | |||
*4. Hemangioma(s) on the face/forehead | |||
*5. Defective lateral differentiation of the brain (some have holoprosencephaly) | |||
*6. Sixth finger on ulnar side of hand | |||
*7. Heart and kidney abnormalities | |||
*8. Cryptorchidism in male; bicornate uterus in females | |||
*9. Severe mental retardation}} | |||
{{hidden|List 5 features of Trisomy 14.| | |||
*1. Normal weight but short length at birth | |||
*2. Narrow deep-set eyes | |||
*3. Short, bulbous nose | |||
*4. Small lower jaw | |||
*5. Low-set, misshapen ears | |||
*6. Heart abnormalities | |||
*7. Severe mental retardation | |||
*8. Usually mosaic }} | |||
{{hidden|List 5 features of Trisomy 18.| | |||
*1. Growth deficiency (prenatal) | |||
*2. Prominent occiput | |||
*3. Small mouth and jaw | |||
*4. Low-set, misshapen ears | |||
*5. Short sternum | |||
*6. Clenched hand | |||
*7. Short big toe, often flexed upward | |||
*8. Rocker-bottom" feet | |||
*9. Small pelvis with limited hip movement | |||
*10. Heart abnormalities | |||
*11. Severe mental retardation}} | |||
{{hidden|List 5 features of Trisomy 21.| | |||
*1. Flat face | |||
*2. Brushfield spots present when eyes are blue | |||
*3. Upslanting eyes | |||
*4. Small ears | |||
*5. Small mouth (with tongue often protruding) | |||
*6. short fingers (especially fifth | |||
*7. Heart abnormalities in some cases | |||
*8. IQ usually 25-50 but occasionally higher}} | |||
{{hidden|What is the most common outcome of a pregnancy when the parent has a balanced translocation?|Misscarriage}} | {{hidden|What is the most common outcome of a pregnancy when the parent has a balanced translocation?|Misscarriage}} | ||
==Peripheral Blood Culture and Harvest== | ==Peripheral Blood Culture and Harvest== | ||