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7. Genetic Counseling
BrownMed
42
Business
Graduate
11/16/2010

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Cards

Term
risk of birth defects for general population?
Definition
5-7% including first 2 years of life
Term
major anomaly
Definition
significant cosmetic, medical, and surgical consequence. (congenital heart disease, cataract, diaphragmatic hernia)
Term
minor anomaly
Definition
insignificant consequence - skin tag, transverse palmar crease, overlapping toes, double hair whirl, polydactyly
Term
malformation
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
Term
deformation
Definition
normal developmental process, mechanical forces cause problem
Term
disruption
Definition
developmental process is normal but interrupted
Term
dysplasia
Definition
abnormal tissue organization, microscopic structure
Term
association
Definition
non-random group of congenital anomalies
Term
amniotic band
Definition
hard piece of amniotic fluid "cuts" a normally formed hand, = disruption
Term
example of variable expression
Definition
freaky friday the 13th - trisomy 13 either freaky or born with one incisor instead of two
Term
malformation sequence
Definition
multiple defects derived from a single known or presumed structural defect. meningomyelocele, pierre-robin sequence, oligohydramnios sequence
Term
meningomyelocele
Definition
club foot, hydrocephalus = malformation sequence
Term
pierre-robin sequence
Definition
mandibular hypoplasia > posterior displacement of the tongue > cleft palate (malformation sequence)
Term
oligohydramnios sequence
Definition
renal agenesis, leakage of amniotic fluid of pulmonary hypoplasia > oligohydramnios > fetal compression, IUGR, deformation of the limbs, "potter facies"
Term
congenital hip dislocation
Definition
deformation
Term
positional plagiocephaly
Definition
= flat back of head, = deformation. parallelogram appearance. ear on affected side displaced, chin and nose deviate to unaffected side
Term
porencephaly
Definition
cyst develops in brain, leading to problems. disruption!
Term
difference between deformation and disruption
Definition
deformation is theoretically reversible
Term
if it looks like a toe is cut off
Definition
amniotic band disruption
Term
malformed teeth, sparse hair, inability to sweat
Definition
dysplasia of the ectoderm
Term
VACTER
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
Term
trisomy 13 vs. translocation 13
Definition
translocation = much higher risk of recurrent abnormal pregnancy
Term
alpha1-antitrypsin deficiency
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.
Term
inheritance of AAT deficiency
Definition
alpha antitrypsin deficiency is autosomal recessive
Term
how do you diagnose AATD
Definition
by demonstration of low plasma concentration of alpha1antitrypsin
Term
PI MM, MS, MZ, SZ, ZZ
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)
Term
when is carrier testing ok
Definition
when it changes a child's medical management or when people are trying to have a child
Term
x-linked commonly lethal in males pedigree
Definition
more live females than males; opposite of x-linked (but still no male to male transmission)
Term
mitochondrial disease pedigree
Definition
no male to offspring transmission; females with lots of variably affected offspring (some have mild or no symptoms yet)
Term
Crouzon syndrome / inheritance / chance of having an affected child
Definition
craniosynostosis (premature closure of the skull), proptosis of the eyes. AD. 50%
Term
Tay-Sachs disease / risk for sibling to be a carrier / inheritance
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
Term
sickle-cell anemia
Definition
dominant? with incomplete penetrance, with three traits: S, C, or thalassemia
Term
Hemophilia A inheritance, risk assessment for carrier and pregnancy if sister's son has it
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
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
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
Term
do all the practice genetics questions!
Definition
Term
recurrence risk for multifactorial malformations?
Definition
3-5%
Term
cytogenetic disorders are present in how many live births?
Definition
1/200. 1/20 stillbirths, 1/2 first trimester miscarriages. - chromosomal disorders
Term
infant has achondroplasia, but no one else in the family does. what is the recurrence risk? / what makes it worse?
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
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
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
Term
what test do you send for fragile x?
Definition
you check for repeats with the purple top. no specific test.
Term
single gene AD disorders for green top
Definition
crouzon's, marfan's, achondroplasia
Term
if you have a baby that looks like VACTER but there's a concern regarding development or dysmorphic facial features...
Definition
consider microarray testing
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