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46 Cards in this Set

  • Front
  • Back
agenesis
failure of an organ or part to develop or grow
albinism
congenital, partial, or total absence of pigment of hair, skin, and eyes
aplasia
failure of an organ or part to develop normally
allele
one of a series of alternate forms of a gene at the same locus. Ex. A, B, and O are alleles for the blood group gene. A person with blood type AB has the A allele on one chromosome and the B allele at the same locus on the homologous chromosome
atresia
congenital absences or closure of a normal body opening or tubular structure
autosome
a chromosome that is not a sex chromosome
carrier
an individual possessing a mutant gene or chromosomal rearrangement which usually is not clinically apparent and which may be passed on to his/her offspring
chromosome
the structural elements in the cell nucleus composed of DNA and proteins which contain the genes
congenital
present at birth
consanguinity
refers to a mating between individuals of common ancestry
consult and consultant
the individual who seeks counseling. On the pedigree it is marked by an arrow
division failures
a failure of tissue to separate into parts which results in anomaly
dominant
a gene (allele) which is expressed clinically in the heterozygous state. In a dominant disorder the mutant allele overshadows the normal allele
dysplasia
abnormal development of tissue
dysraphic anomalies
failure of a raphe formation or failure of fusion of parts that normally fuse
ectopic
in an abnormal position
expressivity
the extent to which a gene is clinically expressed in an individual. Variable expressivity refers to the variation in severity produced by the same gene in different individuals
gamete
the germ cells, egg, and sperm
genotype
the genetic composition of an individual
heterotopic
development of normal tissue, organ, or part in an abnormal location
heterozygote
an individual who has two different alleles at a given locus on a pair of homologous chromosomes
homologous chromosome
a pair of chromosomes, one from each parent carrying the genes for the same traits. When looking at a karyotype, the members of a homologous pair look alike
hypoplasia
underdevelopment of a tissue, organ, or body
index case
the affected individual who brings the family to the attention of the geneticist. Also known as the proband or propositus/proposita
homozygote
an individual who has two identical alleles at a given locus
involution failures
failure of the normal involution of congenital tissue which results in anomaly
karyotype
the picture of the chromosomes arranged in a standard order
linkage
when genes for different traits are located in close proximity on the same chromosome
locus
the position or place that a gene occupies on a chromosome
monosomy
when one chromosome of one pair is missing
mosaic
an individual who has two or more cell lines which differ from each other in chromosome number or morphology
multifactorial
the interaction of many genes and the environment
mutagen
an environmental agent, either physical, chemical, or biological, capable of inducing mutation
mutation
a heritable change in a gene
nondisjunction
failure of paired chromosomes to separate during cell division
pedigree
a graphic picture using symbols that represent an individual's family tree
penetrance
frequency with which individuals carrying a given gene will show the clinical manifestations associated with that gene
phenotype
the observable characteristics of an individual
recessive
a gene (allele) which is expressed clinically in the homozygous state. In a recessive disorder, both genes at a given locus must be abnormal to manifest the condition
syndrome
a collection or pattern of physical findings that occur together and have the same etiology
sex chromosome
the x and y chromosomes which normally are responsible for sex determination
teratogen
an environmental agent capable of causing malformation(s)
translocation
a rearrangement occurring when a piece of one chromosome is broken off and joined to another chromosome. An individual with a balanced translocation has the normal amount of genetic material, but it is rearranged and thus gametes could be produced which contain an unbalanced translocation
trisomy
the presence of three homologous chromosomes rather then the normal two
x-linked
a gene located on an x-chromosome (formerly known as sex-linked)
zygote
a fertilized egg