Term
| Autosomal recessive diseases |
|
Definition
| -CF, Tay Sachs, Sickle cell, congenital deafness, PKU |
|
|
Term
|
Definition
-proportion of given phenotype in a population
- ie: 20 ppl with A/A in pop of 100, frequency is 0.2
- Sum of all genotypes equals 1 |
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Term
|
Definition
- the frequency of a given allele = # of "A" alleles/ total # of all alleles of that gene population
- p= A, q= a
- p+q= 1(sum of all frequencies) |
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Term
| Allele frequency predicts genotype frequency |
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Definition
-A/A A/a a/a
- p2 + 2pq + q2= 1 |
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Term
HW example: Whats frequency of disease causing mutation if incidence of sickle cell is 1/400?
Frequency of heterogenous carrier |
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Definition
-incidence (1/400)= q2
- q= 1/20
- 2pq = 2q |
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Term
| Applications/ Approximations (AR) |
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Definition
|
|
Term
| Applications/ Approximations (AD) |
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Definition
| Affected 2pq = 2q (vast majority of affected individuals are Aa) |
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Term
| Applications/ Approximations (XR) |
|
Definition
Affected males = q Affected females = q2 (affected females are much rarer than affected males)
heterozygous female = 2q |
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Term
| Applications/ Approximations (XD) |
|
Definition
Affected males = q
Affected females = 2pq (frequency of carriers) |
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Term
|
Definition
- for rare diseases, prob that two carriers will marry becomes more rare
- this prob only increases if ppl inherit allele from common ancestore |
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Term
| X- Linked Recessive diseases |
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Definition
| - Hemophilia A, Duchenne muscular dystrophy |
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Term
| Duchenne muscular dystrophy |
|
Definition
- X linked recessive
- 1/3 new mutations
- genetically lethal by 20- respiratory or cardiac failure |
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Term
| Homozygous for mutant allele: X linked recessive females |
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Definition
- Common disease allele: an affected male might marry a female carrier
- Consanguinity: father is affected, increased probability mother is heterozygous |
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Term
| Homozygous for mutant allele: X linked recessive females |
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Definition
| - Female hemizygous for the X chromosome: one X chromosome or a deletion of the X chromosome and there's a mutation in the remaining copy of the gene (ie: Turner's syndrome) |
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Term
| Homozygous for mutant allele: X linked recessive females |
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Definition
-X inactivation: lyonization
- epigenetic, doesn't change the genotype, a heritable change
- females don't produce more gene product that males bc only one active X
- females have diff combos of genes active in various cells
- variabilty of expression among heterozygous females |
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|
Term
|
Definition
- all males hemizygous and affected
- all daughters heterozygous and affected
- affected females are twice as common as affected males |
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Term
|
Definition
- mutations at different loci (genes) resulting in the same clinical phenotypes
- ehlers danlos syndrome ( can be AD, AR or XR) |
|
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Term
|
Definition
| - different mutations at same locus (gene) |
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Term
| Autosomal dominant diseases |
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Definition
| - PKU, Huntingtons, NF1, Marfans, Familial hypercholersterolemia, myotonic dystorphy, acondroplasia |
|
|
Term
| Autosomal dominant diseases |
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Definition
| - PKU, Huntingtons, NF1, Marfans, Familial hypercholersterolemia, myotonic dystorphy, acondroplasia |
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|
Term
| Autosomal Dominance exceptions |
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Definition
| - new mutations, variable expressivity, penetrance, mosaicism (somatic, germline), age of onset (parent dies prior to onset), nonpaternity |
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Term
| New Mutations (Autosomal Dominant) |
|
Definition
- severe and lethal in childhood
- osteogenesis imperfecta type II |
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Term
| Variable Expressivity (Autosomal dominant) |
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Definition
- variablity in phenotypic expression of disease
- genes may affect multiple organ systems: pleiotorpic effects
- Waardenburg syndrome, NF1, Marfans, Ectrodactyly |
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Term
| Penetrance (Autosomal Dominance) |
|
Definition
- either have symptoms or dont
- those without= non penentrant/ obligate heterozygote |
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Term
| Mosaicism (Autosomal Dominance) |
|
Definition
- 2+ germlines that are genetically different are derived from single zygote
- mutation in single cell occurs after fertilization (ie cancer cells)
- children can inherit normal alleles |
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Term
| Germline mosaicism (autosomal dominance) |
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Definition
- occurs in gametes
- if mutations occur during embryogensis- somatic and germeline mosacism may coexist in same person |
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Term
|
Definition
- autodom variable expressivity
- germline mosaicism
- cafe au lait, hamartomas |
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|
Term
| Familial Hypercholesterolemia |
|
Definition
- auto dom
- artheromas, xanthomas, arcus cornea
- manifest earlier in childhood and more severe in homozygous |
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Term
|
Definition
- autosomal (not on sex chromosome)
- phenotype is expressed in one genotype
- male pattern baldness |
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|
Term
|
Definition
- ID 30,000 genes in human DNA
- sequence 3 billion base pairs
- store and analyze |
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Term
| Presymptomatic genetic tests |
|
Definition
- looking form mutations that have high penetrance (auto dom)
- tests are sensitive and specific
- huntingtons and alzheimbers |
|
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Term
|
Definition
- looking for mutations that lead to higher risk of developing a disease
- apo-e (alz) brca 1 brca 2 |
|
|
Term
| IU Health Engagement program |
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Definition
| - biometric screening, no smoking, online health assesment, bp, cholesterol, bmi |
|
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Term
| Genetic Information Nondiscrimination Act- Gina |
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Definition
| - no discrimination from insurers or employees based on genetic info |
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Term
|
Definition
| the study of morphology of chromosomes, their inheritance and their relationship to disease |
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Term
| Population incidence of chromosome abnormalities |
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Definition
-50-60% of first trimester miscarriages
- 10% of stillbirths
- 1% of live births
- 2% of pregnancies in women over 35 |
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Term
|
Definition
- naturally occurring loss of pregnancy before 20 weeks gestation
- 20% of pregnancies (1st tri)
- turners most common
- autosomal trisomy is 50% |
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Term
|
Definition
| offered to every expectant woman regardless of age |
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Term
|
Definition
| displays chromosomes largest to smallest according to location of centormere |
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Term
|
Definition
| use of nomenclature to describe the chromosomal complement |
|
|
Term
|
Definition
| diagrammatic representation of karyogram |
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|
Term
|
Definition
| - culture cells, arrest in metaphase (miotic inhibitor), harvest with hypotonic solution and fix, drop onto microscope slides and band |
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Term
|
Definition
- Gtg banding (most common, trp, stain with giemsa)
- FISH (fluorescent probes)
- comparative genomic hybridization (CGH- gains or losses of genome, mix with normal control DNA) |
|
|
Term
|
Definition
Detects: aneuploidy, deletions, precise breakpoints
Doesnt: balanced rearrangements, robersonian translocation, mosaicism, polyploidy |
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Term
|
Definition
- failure of homologous chromosomes (mei I- both parents in gamete) or chromatids (mei II- one or the other in gamete) to properly segregate
- after zygote (mosaicism) |
|
|
Term
|
Definition
- both homologous or segments of homologs are inherited from one parent
-abnormal phenotype with imprinting
- trisomic rescue possible mechanism
- angelman parental chrom 15
- prader- willi maternal chrom 15
- auto recessive in ppl with one carrier parent
- x linked from father to son or homo daughters |
|
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Term
|
Definition
- 69 XXY, XXX, XYY
- 1-3% pregnancies, 20% SABs, 10 month survival
- hapoid egg + 2/diploid sperm or 1 sperm + diploid egg (has polar body)
- 85% diandric (parental), rest digynic (maternal) |
|
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Term
|
Definition
| - hydrocephaly, micropthalmia, hypertelorism, dysplasmic ears, syndactyly, abnormal of heart/lungs/kidney |
|
|
Term
|
Definition
- monosomy- 1 copy of chromosome
- only viable monosomy - 45,x
- trisomy- 3 copies, most common aneuploidy |
|
|
Term
|
Definition
- 1/2500, 99% SAB
- normal IQ and lifespan
- short, webbed neck
- no 2nd sex characteristics
- streak gonads
- heart and kidney problems, fingers
- mei/mitotic nondisjuction
- centromere misdivision to form isochromosome |
|
|
Term
|
Definition
- 1/2500, 99% SAB
- normal IQ and lifespan
- short, webbed neck
- no 2nd sex characteristics
- streak gonads
- heart and kidney problems, fingers
- mei/mitotic nondisjuction
- centromere misdivision to form isochromosome
- UT: cystic hygroma, hyrdops, heart, horseshoe kidney |
|
|
Term
|
Definition
- 1/1000 males
- most common cause of hypogonadism and infertility
- less testosterone, tall, gynecomastia
- behavior, low self esteem, depression |
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Term
|
Definition
- most meiotic nondisjunction
- majority lethal by 6 mons
- polydactyly, holoprosencephaly
- microcephaly, micropthalmia
- mental retardation, cleft, heart, UG, hearing loss |
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|
Term
|
Definition
- majority dead by 1 year
- severe MR, micrognathia, small, hypertonia
- overlapping fingers, hearing loss, heart, rock bottom feet
- short sternum |
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|
Term
|
Definition
- 1/800, most common
- brushfield spots, moderate MR
-heart, duodenal, leuk, alz, single palmar crease |
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|
Term
| 47, XX, + 21 or 47, XY, + 21 |
|
Definition
- 95%
- advanced maternal age (AMA)
- meiotic nondis
- maternal origin |
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Term
| Robertsonian translocation Down Syndrome |
|
Definition
- 46,xx,der(14,21)(q10,q10)+21
- de novo or inherited
- no AMA |
|
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Term
|
Definition
- trisomy lost in development in some cells
- two cells lines 47,XX+21/46,XX |
|
|
Term
|
Definition
- loss of segment, dominant mutation
- monosomic, lethal when homozygous |
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Term
| Wolf- Hirschhorn del(4)(p16) |
|
Definition
- mental and growth retardation
- hypertelorism
- cleft, broad nose, microcepahly, micrognathis, heart, down turned mouth |
|
|
Term
| Cri- du- chat del(5)(p14) |
|
Definition
- frequent survival to adulthood
- profound MR
- hypotonia infant, hypertonia adults,
- hypertelorism, retrognathia
- epicanthal folds, round face |
|
|
Term
|
Definition
- microdeletions
- contiguous gene syndromes: two or more closely linked genes impacting mulitple organ systems
- detected by FISH |
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|
Term
| DiGeorege/Velocardiofacial Syndrome 22q11.2 Deletion Syndrome |
|
Definition
- congenital heart disease
- auto dom with variable expressivity
- CL/P small features
- learning and behavior difficulties
- VSD- long facies/nose, learning ish |
|
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Term
|
Definition
- extra chromosomal segment: partial trisomy
- tandem: contigous doubling of segment |
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Term
| 22q11.2 Duplication Syndrome |
|
Definition
- 3mb, 1/700
- overlapping syn with 22q11 deletion
- variable expressivity and severity
- MR, psychomotor development
- growth retardation
- muscular hypotonia, heart, hearing |
|
|
Term
|
Definition
- chromosomal rearrangements
- often no phenotype
- reproductive and/or genetic risks
- can interrupt a gene or regulatory region |
|
|
Term
|
Definition
- Inversion: ds break in both the p arm and the q arm
- polymorphic- 1, 9, 16
- benign recurring- 2, 3, 10, y
- inv(9)(p11q13) - 40% |
|
|
Term
|
Definition
- inversion in one arm of the chromosome
- less common than peri
- 3p and 6p, 7q, 11q |
|
|
Term
|
Definition
- reciprocal ( balanced, normal)
- robertsonian |
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|
Term
| Translocations in meiosis |
|
Definition
- homologous regions are paired
- 2 translocated chromosomes are across from each other
- 2 normal chromosomes are across from each other
- adjacent 2: lethal |
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|
Term
| Segregation patterns in metaphase I or meiosis I |
|
Definition
- alternate- normal/balanced
- adjacent 1- homologous centromeres separate, unbalanced and zygotes may be viable
- adjacent 2- homologous centromees go to the same pole, unbalanced and nonviable |
|
|
Term
| Supernumerary der(22)t(11;22) Syndrome Emanuel Syndrome |
|
Definition
- 47,XX,+der(22)t(11;22)(q23;q11)
-only recurring reciprocal translocation in humans
- one parent is balanced carrier or t(11;22)- normal phenotype, increased miscarriage
- intellectual disability, microcephaly, failure to thrive, ears, cp, micrognathia, kidneys, heart |
|
|
Term
|
Definition
- between acrocentric
- loss of short arm
- most frequent 13q;14q- 32.6% |
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Term
| Segregation of rob(14,21) in Metaphase I of meiosis I |
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Definition
-alternate- gametes are normal/balanced
- adjacent- gametes unbalanced and lead to miscarriage or downs
- expect 30% of liveborn offspring to have downs |
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|
Term
| Indications for prenatal diagnosis |
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Definition
| - AMA (35), maternal diabetes, fam hx chrom abnormality/ genetic disoders/birth defects, NTD risk, abnormal ut, maternal serum screen |
|
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Term
|
Definition
- id of at risk pregnancies
- risk assesment and genetic counseling
- discussion of Dx procedures and testing |
|
|
Term
|
Definition
- history and physical
- maternal serum screening ( 1st tri, 2nd tri, for open NTD and aneuplodies), noninvasive not dx, just id risk
- ut (1st tri, 2nd tri) |
|
|
Term
|
Definition
- 85% multifactorial inheritance, rest chrom abnormal
- folic acid decreases risk 50-75%
- occurs 3rd to 4th week of fetus
- leads to paralysis, incontinence and developmental delay
- elevated MS-AFP 16-18 wks
- UT- lemon or banana sign, hydrocephalus |
|
|
Term
|
Definition
- AFP + hCG + uE3 (unconjugated estradiol)
- second trimester screen |
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|
Term
| Maternal Serum Screening- Downs |
|
Definition
- triple screen + mat age
- detection rate 60-65%, FP 5%
- elevated HCG, low uE3, low AFP, low PAPP-A
- UT: heart, duodenal atresia, NT thick, bowel, short bones, renal, fingers, sandal gap, nasal |
|
|
Term
| Triple Screen - Trisomy 18 |
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Definition
| - all serum biochemical markers are low |
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|
Term
| 1st trimester maternal serum quad screen |
|
Definition
- triple screen plus PAPP-A
- risk assessment for Downs and trisomy 18
- 9-13 weeks gestation via blood spot |
|
|
Term
|
Definition
- MSS with fetal nuchal translucency through sonar to give risk assesment for Downs and trisomy 18
- thick NT = chrom abnormalities (measured with free beta HCG/PAPP-A) or cardiac, diaphragm and other birth problems |
|
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Term
|
Definition
| - incorrect gest age, multiple gestations, preeclampsia, aburption, premature labor, Small for gest age, fetal anomalies, fetal demise, still birth, bad placenta |
|
|
Term
| UT for chrom abnormalities |
|
Definition
- heart, NT, abdominal wall, cystic hygroma, renal, intracranial, skeletal
- trisomy 21, 18, 13, turners, triploidy, unbalanced rearragementes |
|
|
Term
|
Definition
| - holoprosencephaly, CP, polydactly, heart, IUGR, omphalocele, UG, NT |
|
|
Term
|
Definition
- fetal cells from the abdomen
- 15-16 weeks after last menstral cycle
- can assay AFP ( from the liver) for NTDS
- risk: 0.3 miscarriage, cramps, leakage, infection, rhogam, fetal injury |
|
|
Term
| Chorionic Villus Sampling |
|
Definition
- chorionic tissue villi from cervix or abdomen
- 11-12 weeks pregnant
- same risk as amnio plus limb abnormalities
- dont use if - STD's or anatomical factors |
|
|
Term
| Percutaneous Umbilical Blood Sampling (PUBS) or Cordocentesis |
|
Definition
- fetal blood from umbilical cord with UT
- used as follow up or when blood cells needed
- 19-21 weeks of pregnancy
- 2-3% fetal loss, risk of hemorrhage infection |
|
|
Term
| Treatment for genetic disorders |
|
Definition
- losartan for marfans, gh for down
- enzyme replacement for storage disorders, sapropterin for PKU
- prophylactic surgery for familial cancer
- echo for heart disease |
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|
Term
|
Definition
environmental or endogenous agent, in utero exposure
- effected by timing, dosage, genetic susceptibility, route of administration, interaction btw teratogens |
|
|
Term
|
Definition
- alcohol most important teratogen
- leading cause of MR
- 1/500 live births
- growth deficiency, face, behavior |
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|
Term
|
Definition
- premature
- interauterine growth restriction, stroke
- microcephaly, behavior |
|
|
Term
|
Definition
- used as hyperemesis
- limb reduction defects |
|
|
Term
|
Definition
| - face, heart, Spina bifida |
|
|
Term
| Cyclophosphamide (Cytoxan) |
|
Definition
| - heart, digits, cp, imperofrate anus, microcephaly, eyes |
|
|
Term
|
Definition
- nasal hypoplasia
- stippled epiphyses
- low birth weight |
|
|
Term
|
Definition
| - microtia, face, heart, NTs, brain |
|
|
Term
|
Definition
|
|
Term
|
Definition
- toxoplasmosis (rahses, chorioretinitis, hepatospleno, premature, hearing)
- Rubella (heart, hearing, eyes- triad, blueberry muffin baby)
- CMV (microcephaly, seizures, calcium in brain, hepatospleno, hearing, vision , petechaie |
|
|
Term
|
Definition
- Radiation
- mother- chronic health conditions (diabetes, heart)
- mother- pku |
|
|
Term
|
Definition
- Sickle cell (point mutation)
- thalassemia (lack of globin) |
|
|
Term
| Refractory Anemia with Ringed Sideroblasts/ Myelodysplastic syndrome |
|
Definition
- jak2 or mpl mutations in granulocytes
- acquired stem cell defect (genetic not familial) |
|
|
Term
| Genetic testing in staging CML |
|
Definition
- Chronic (ph+ or normal cyto): 5-7years
- Accelerated (ph+, +/- chromosomal abnormalities): 12 months
- Blast crisis: <12 months |
|
|
Term
|
Definition
- Heterodisomy: to diff homologs of same chromosome ( nondis- mei 1)
- Isodisomy (same homologs in one gamete, nondis-mei II, rare)
- trisomic rescue (two homologs from one parent, solo homo from other, loss of solo homo) |
|
|
Term
|
Definition
- Somatic cells
- one allele is on, the other is imprinted/hypermethylated (reversible) |
|
|
Term
|
Definition
-MR,palpebral fissure, hypotonia, hyperphagia
- paternal deletion of 15q12 (70%) (maternal imprinted- 25% cases) |
|
|
Term
|
Definition
- MR, happy puppet
- maternal deletion 15q12n (70%) (paternal imprinting 5% cases) |
|
|
Term
|
Definition
- occurs before fertilization
- transcriptional silencing
- stable transmission through mitosis in autosomes
- must be reversible on passage through the oppposite sex |
|
|
Term
|
Definition
- lack of proof reading, higher mutation than nucleus
- mtDNA 37 genes
- disorders of OXPHOS fatty acid oxidation
- neurological problems- most common finding
- mtDNA sorts and distributes randomly in cells
- heteroplasmy (more than one type of mtDNA)
- homoplasmy ( one type of mtdDNA)
- threshold effect: too many mutant mito= disease
- reduced penetrance, variable expressivity, pleiotrophy
- de novo mutations- deletions |
|
|
Term
| Leber hereditary optic neuropathy (LHON) |
|
Definition
- central vision- death of optic nerve
- point mutation on mtDNA
- complicated gender and age dependent penetrance |
|
|
Term
|
Definition
- number of mtDNA is reduced then amplified in the mature oocyte
- variability in the percentage of mutant mtDNA seen in offspring |
|
|
Term
|
Definition
- after 7 weeks sox9/dax1
- y with sry/tdf= male
- y absent= female |
|
|
Term
|
Definition
- located at yp11.3/msy region
-activates male trans factors (sox9)
- sertolis (MIF) and leydigs (test)
- deletion = xy female
- translocation = 46,XX male |
|
|
Term
|
Definition
- most distal p and q portion of X and Y chromosome
- crossing over occurs during male meiosis
- Y chrom genes have X homolog which escapes inactivation
- location of SRY and testis det factor
- if SRY transfered to X chrom:female
- traits at pseudo loci appear as auto inheritnace |
|
|
Term
| Pseduoautosomal Dyschondrosteosis |
|
Definition
1. mutant shox on maternal x
2. mutant x passed to son
3. mutant x passed father to daughter
4. mutant Y passed from father to son (recombination pdt) |
|
|
Term
|
Definition
- expressed in bipotential gonad
- upregulated by SRY, 2 needed for male
- regulates MIF with SF1
- disruption: campomelic syndrome, xy female
- duplication: 46, XX male |
|
|
Term
| Steroidogenic factor 1 (SF1) |
|
Definition
- expressed in bipotential gonads
- binds to SRY to boost sox9 activity
- regulates MIF
- needed for testes
- mutation: 46, XY female |
|
|
Term
| Dosage Sensitive Sex Reversal, Xp21 (DAX-1) |
|
Definition
- inhibits SRY and SOX 9
- one copy: male
- two copies: female
- gain of function mutation: 46, XY female |
|
|
Term
| Female Pseudohermaphroditism (46, XX) |
|
Definition
- two ovaries, virilized ex gen
- CAH most commom cause: excess testosterone transplancentally
- 21 hydroxylase deficiency
- also with salt wasting and no mineros
- males have normal genetalia
- untreated: precocious puberty, short adults |
|
|
Term
| Male Pseudohermaphroditism (46, XY) |
|
Definition
- y chrom and testes, femalish ex gen
- androgen insensitivity syndrome: fem ex gen, no mullerians, x-linked, normal feminization at puberty
- lack of puberty hair
- normal to elevated test and est |
|
|
Term
|
Definition
- both testicular (dysgenic) and ovarian tissue (normal)
- 70% 46, XX, 20% mosaic |
|
|
Term
|
Definition
- pure: streak gonads
- mixed: testes on one side, streak on the other |
|
|
Term
| Birth Defects and public health |
|
Definition
- 3-5% children have significant defect
- 30% of admissions in pediatric hospitals
- leading cause of infant mortality in the US
- most common: undescendent testes -> heart -> club foot -> NT -> CP
- 50% idiopathic |
|
|
Term
|
Definition
- failure of midface and forebrain formation
- most common human congenital brain defect
- SHH mutation |
|
|
Term
| Sonic Hedgehog Gene (SHH) |
|
Definition
- developmental regulatory gene
- auto dom (incomplete penetrance, variable expressivity)
- loss of function
- some mutations due to translocation |
|
|
Term
|
Definition
- transcription factor for eye development
- heterozygotes have either aniridia or anopthalmia |
|
|
Term
|
Definition
- defects in genes or chromosomes that specify a seris of developmental steps or programs
- poor formation of tissue |
|
|
Term
|
Definition
- largest impact of single malformation
- 85% multifactorial inheritance
- 12-15% chromosome abnormalities
- 3rd- 4th week embyro
- folic acid 1 month prior and 2 months after conception |
|
|
Term
|
Definition
- intrauterine constraint or decreased fetal movement
- 90% spontaneous correction
- intrinsic: prune belly, urethral obstruction
- extrinsic: from severe oligohydramnios potter, respiratory distres, face |
|
|
Term
|
Definition
- necrosis of tissue or interference with a normal developmental process
- breakdown of normal tissue
- amniotic bands |
|
|
Term
|
Definition
- abnormal development of specific fetal tissue
- abnormal process continues and clinical effects can worsen
- abnormal organization of cells in tissues
- acondroplasia |
|
|
Term
|
Definition
- patterns of multiple birth defects that result from a single localized defect in morphogenesis
- initially affecting single organ system
- obstructed urethra->oligohydramios->dialted ureters-> enlarged cystic kidneys (Potters)
- Robins (restricted manible -> CP
) |
|
|
Term
|
Definition
- non random clustering of defects w/o genetic etiology
- occurance at higher rate than by chance |
|
|
Term
|
Definition
- Colobomata: gap in iris
- Heart
- Choanal atresia
- Retarted growth and development
- Genitalia abnormalities
- Ear anomlaies
- Gene: chromodomain helicase DNA binding protein 7 |
|
|
Term
|
Definition
- recognizable patterns of defects by single gene or chromosomal etiology
- Ehler- Danlos, downs
- Beckwith-Wiedemann Syndrome (BWS): overgrowth bc IFG2 db expression, risk of malignancy, normal intelligence
- 9x higher risk with IVF |
|
|
Term
|
Definition
environmental or endogenous agent, in utero exposure
- effected by timing, dosage, genetic susceptibility, route of administration, interaction btw teratogens |
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|
