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18 Cards in this Set
- Front
- Back
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List some causes of genetic diseases and birth defects
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-multifactorial
-chromosomal abnormalities -single gene -teratogens -non-Mendelian inheritance |
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Define dysmorphology
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-study of abnormal form
-branch of clinical genetics that specializes in birth defects |
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What are the 3 categories of birth defects?
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-Malformations
-Deformations -Disruptions |
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What are malformations?
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-birth defects that result from intrinsic abnormalities in one or more genetic programs operating in development
-can result from chromosomal imbalance, teratogens, single gene disorders, multifactorial diseases |
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What are the differences between major and minor malformations?
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-Major:if uncorrected or uncorrectable, can significantly impair normal body function or reduce normal life expectancy
-Minor: mainly cosmetic; usually isolated and run in families |
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Give some examples of major malformations
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-cleft lip
-spina bifida -omphalocele |
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Give some examples of minor malformations
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-transverse palmar crease
-2 hair whirls -2,3 toe syndactyly |
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What kind of malformation can be caused by chromosomal abnormalities?
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Trisomy 13 (polysyndactyly, bilateral cleft lip)
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What kind of malformation can be caused by single gene disorders?
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brachyldactyly (short fingers)
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What kind of malformation can be caused by multifactorial disorders?
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cleft lip (usually isolated, seen more in males) and cleft palate (commonly associated with syndrome, seen more in females)
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What malformation can be caused by teratogens?
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Fetal alcohol syndrome
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Define syndrome
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multiple abnormalities that are thought to be etiologically related
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Define sequence
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chain of developing malformations, one leading to the next
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Define association
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Nonrandom occurrence in 2 or more individuals of multiple congenital anomalies not known to be a sequence or syndrom
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Define deformation
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change in shape of an otherwise normally developed body part
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Give some examples of deformations
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-breech deformation
-clubbed feet due to neural tube defect (malformation leading to deformation) |
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Define disruption
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abnormalities resulting from destruction of otherwise normally developed body part; usually does not resolve on own
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Give an example of a disruption
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amniotic bands wrapping around body parts
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