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47 Cards in this Set

  • Front
  • Back
agenesis
failure of an organ or part to develop or grow
albinism
congential, partial, or total absence of pigment of hair, skin, and eyes
aplasia
failure of an organ to dev. normally
allele
one of a series of alternate forms of a gene at same locus (blood type)
atresia
congenital absences or closure of a normal body opening or tubular structure
autosome
a chromosome that is not a sex chromosome
carrier
individual possessing a mutant gene or chromosomal rearrangement which usually is not clinically apparent and which may be passed on to offspring
chromosome
structural elements in cell nucleus composed of DNA and proteins which contain the genes
congenital
present at birth
consanguinity
mating b/n individuals of common ancestry
consultand
individual who seeks counseling, marked by arrow
division failures
failure of tissue to separate into parts which results in anomaly
dominant
gene which is expressed clinically in the heterozygous state
dysplasia
abnormal dev. of a tissue
dysraphic anomalies
failure of a raphe formation or failure of fusion of parts that normally fuse
ectopic
in abnormal position
expressivity
extent to which a gene is clinically expressed in individual
variable expressivity
refers to variation in severity produced by same gene in different people
gamete
germ cells, eggs and sperm
genotype
genetic composition of an individual
heterotopic
dev. of normal tissue, organ or part in abnormal location
heterozygote
individual who has 2 diff alleles at given locus on a pair of homologous chromosomes
homologous chromosome
pair of chromosomes, one from each parent carrying genes for same trait
homozygote
ind. who has 2 identical alleles at given locus
hypoplasia
underdev. of a tissue, organ, or body
index case/proband
affected individual who brings family to attention of geneticist
involution failures
failure or normal involution of congenital tissue which results in anomaly
karyotype
picture of chromosomes arranged in standard order
linkage
when genes for diff. traits are located in close proximity on same chromosome
locus
position that a gene occupies on a chromosome
monosomy
one chromosome of one pair is missing
mosaic
ind. who has 2+ cell lines which differ from each other in chromosome number or morphology
multifactorial
interaction of many genes and env.
mutagen
env. agent (phys, chem, or bio) capable of inducing mutation
mutation
heritable change in a gene
nondisjunction
failure of paired chromosomes to separate during cell division
pedigree
graphic picture using symbols that represent an ind. family tree
penetrance
frequency with which individuals carrying a given gene will show the clinical manifestations associated with that gene
phenotype
observable characteristics of an ind.
recessive
gene which is expressed clinically in homozygous state
sex chromosome
x and y chromosomes which are normally responsible for sex determination
syndrome
collection or pattern of phys findings that occur together and have same etiology
teratogen
env. agent capable of causing malformation
translocation
rearrangement occurring when a piece of one chromosome is broked off and joined to another chromosome, balanced has normal amt. of genetic material, but is rearranged and thus gametes could be produced which contain unbalanced translocation
trisomy
presence of 3 homologous chromosomes rather than 2
x-linked
gene located on an x-chromosome
zygote
fertilized egg