Term
| risk of birth defects for general population? |
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Definition
| 5-7% including first 2 years of life |
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Term
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Definition
| significant cosmetic, medical, and surgical consequence. (congenital heart disease, cataract, diaphragmatic hernia) |
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Term
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Definition
| insignificant consequence - skin tag, transverse palmar crease, overlapping toes, double hair whirl, polydactyly |
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Term
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Definition
| defect from an intrinsically abnormal developmental process/ cleft lip, congenital heart disease, neural tube defect. can be from different etiologies - either isolated (multifactorial) or genetic |
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Term
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Definition
| normal developmental process, mechanical forces cause problem |
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Term
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Definition
| developmental process is normal but interrupted |
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Term
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Definition
| abnormal tissue organization, microscopic structure |
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Term
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Definition
| non-random group of congenital anomalies |
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Term
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Definition
| hard piece of amniotic fluid "cuts" a normally formed hand, = disruption |
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Term
| example of variable expression |
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Definition
| freaky friday the 13th - trisomy 13 either freaky or born with one incisor instead of two |
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Term
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Definition
| multiple defects derived from a single known or presumed structural defect. meningomyelocele, pierre-robin sequence, oligohydramnios sequence |
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Term
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Definition
| club foot, hydrocephalus = malformation sequence |
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Term
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Definition
| mandibular hypoplasia > posterior displacement of the tongue > cleft palate (malformation sequence) |
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Term
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Definition
| renal agenesis, leakage of amniotic fluid of pulmonary hypoplasia > oligohydramnios > fetal compression, IUGR, deformation of the limbs, "potter facies" |
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Term
| congenital hip dislocation |
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Definition
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Term
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Definition
| = flat back of head, = deformation. parallelogram appearance. ear on affected side displaced, chin and nose deviate to unaffected side |
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Term
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Definition
| cyst develops in brain, leading to problems. disruption! |
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Term
| difference between deformation and disruption |
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Definition
| deformation is theoretically reversible |
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Term
| if it looks like a toe is cut off |
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Definition
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Term
| malformed teeth, sparse hair, inability to sweat |
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Definition
| dysplasia of the ectoderm |
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Term
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Definition
| association! vertebral abnormalities, anal atresia, cardiac, TE fistula, radial ray anomalies / renal. 3 or more is necessary and this is a diagnosis of exclusion |
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Term
| trisomy 13 vs. translocation 13 |
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Definition
| translocation = much higher risk of recurrent abnormal pregnancy |
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Term
| alpha1-antitrypsin deficiency |
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Definition
| = A1PI = alpha1 proteinase inhibitor. protects tissues from enzymes of inflammatory cells, particularly elastase. deficiency = elasticity in lungs is broken down = emphysema or chronic obstructive pulmonary disease and cirrhosis of the liver in adults. |
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Term
| inheritance of AAT deficiency |
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Definition
| alpha antitrypsin deficiency is autosomal recessive |
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Term
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Definition
| by demonstration of low plasma concentration of alpha1antitrypsin |
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Term
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Definition
| m = normal, z = not working, s = some function. mm = normal, ms = mostly normal, mz = increased risk of decreased lung function in AATD, sz = much higher risk of COPD, especially among smokers, zz = clinical disease expected (and lung cancer) |
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Term
| when is carrier testing ok |
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Definition
| when it changes a child's medical management or when people are trying to have a child |
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Term
| x-linked commonly lethal in males pedigree |
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Definition
| more live females than males; opposite of x-linked (but still no male to male transmission) |
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Term
| mitochondrial disease pedigree |
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Definition
| no male to offspring transmission; females with lots of variably affected offspring (some have mild or no symptoms yet) |
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Term
| Crouzon syndrome / inheritance / chance of having an affected child |
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Definition
| craniosynostosis (premature closure of the skull), proptosis of the eyes. AD. 50% |
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Term
| Tay-Sachs disease / risk for sibling to be a carrier / inheritance |
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Definition
| normal motor development but progressive weakness and loss of motor skills, with hypotonia, hyperreflexia, and cherry red macula at 4 months old. / 2/3 / AR |
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Term
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Definition
| dominant? with incomplete penetrance, with three traits: S, C, or thalassemia |
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Term
| Hemophilia A inheritance, risk assessment for carrier and pregnancy if sister's son has it |
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Definition
| X-linked (recessive) - risk assessment for current pregnancy = 1/4 IF is a carrier, which is 1/2 chance. so 1/2 and 1/8 |
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Term
| fetal hydrops, wide-spaced eyes (hypertelorism), and a flat nasal bridge, plus multiple congenital heart defects and low muscle tone. no family history! what explains this? / recurrence risk / what test done |
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Definition
| alpha thalassemia-metal retardation region has a deletion, and there's a separate duplication. she was a silent carrier, but had other problems causing her anemia. Mom is a balanced translocation carrier - there is a recurrence risk. / microarray |
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Term
| do all the practice genetics questions! |
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Definition
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Term
| recurrence risk for multifactorial malformations? |
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Definition
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Term
| cytogenetic disorders are present in how many live births? |
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Definition
| 1/200. 1/20 stillbirths, 1/2 first trimester miscarriages. - chromosomal disorders |
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Term
| infant has achondroplasia, but no one else in the family does. what is the recurrence risk? / what makes it worse? |
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Definition
| about 3%, since achondroplasia is AD and neither parent has it. de novo rate is 70% but you can't rule out germline mosaicism. / advanced paternal age |
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Term
| lost muscle strength in one area but overly developed muscles in another area (pseudohypertrophy). what substance is missing? whats going on? / histology (3) / inheritance |
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Definition
| dystrophin. duchenne's muscular dystrophy. / breakdown of sarcolemma, degeneration and necrosis of muscle fibers, type 1 and 2 muscle fibers attempt to repair and regenerate with fibrosis / x-linked usually lethal in males, 1% female, 30% spontaneous |
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Term
| what test do you send for fragile x? |
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Definition
| you check for repeats with the purple top. no specific test. |
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Term
| single gene AD disorders for green top |
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Definition
| crouzon's, marfan's, achondroplasia |
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Term
| if you have a baby that looks like VACTER but there's a concern regarding development or dysmorphic facial features... |
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Definition
| consider microarray testing |
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