genes that are located at the same level or locus in the 2 chromosomes of a pair and that determine the same functions or characteristics
alleles
Organic compound containing the amino group NH2; they are the main component of proteins
amino acid
nonsex chromosomes, which are identical for men and women
autosomes
condensed cnromatin of the inactiviated X chromosome, which is found at the periphery of the nucleus of cells in women
Barr body
In genetics a heterozyguous individual who is clinically normal but who can transmit a recessive trait or characteristic; also, a person who is homozygous for an autosomal-dominant condition with low penetrance
Carrier
Constricted portion of the chromosome that divides the short arms from the long arms
Centromere
Either two vertical halves of a chromosome that are joined at the centromere
chromatid
general term used to refer to the material (deoxyrobonucleic acid DNA) that forms the chromosomes
chromatin
vertical sequence of three bases in DNA that codes for an amino acid
codon
blood relationship; in genetics the term is generally used to describe a mating or marriage between close relatives
Consanguinity
A substance composed of a double chain of polynucleotides; both chains coiled around a central axis form a double helix; it is the basic genetic code or template for amino acid formation
deoxyribonucleic acid (DNA)
having two sets of chromosomes; the normal constitution of somatic cells
diploid
in genetics a trait or characteristic that is manifested when it is carried by only one of a pair of homologous chromosomes
dominant
degree of clinical manifestation of a trait or characteristic
expressivity
appearance of the face
facies
spermatozoon or ovum
gamete
having more that one inheritance pattern
genetic heterogeneity
cell with a single set of chromosomes; a gamete is this
haploid
individual with two different genes at the allele loci
heterozygote
having identical genes at the allele loci
homozygote
abnormally diminished secretion of sweat
hypohidrosis
presence of less than the normal amount of hair
hyptrichosis
photomicrographic representation of a person's chromosomal constitution arranged according to the Denver classification
karyotype
position occupied by a gene on a chromosome
locus
two-step cellular division of the original germ cells; which reduces the chromosomes from 4nDNA to 1nDNA
meiosis
phase of cellular division in which the chromosomes are lined up evenly along the equatorial plane of the cell and in which they are most visible
metaphase
cytoplasmic organelles that have their own DNA in a circular chromosome
mitochondria
unique DNA that is maternally inherited
mitochondrial DNA
way in which somatic cells divide so that the two daughter cells recieve that same number of identical chromosomes
Mitosis
permanent change in the arrangement of genetic material
mutation
process of formation of femal germ cells (ova)
oogensis
egg; mature feminine germ cell
ovum
frequency with which a heritable trait is exhibited by idividuals carrying the gene or genes that determine that trait
penetrance
en
physical, biochemical, and physiologic makeup of an individual; genotype is the genetic composition, and phenotype is its observable appearance
phenotype
trait or characteristic that shows clinically when a double-gene dose (homozygous) exists in autosomic chromosomes or a single-gene dose exists in males if the trait is X linked
recessive
single strands of polynucleotides found in all cells; different types of RNA have different functions in the production of proteins by the cell
ribonucleic acid (RNA)
cytoplasmic organelles in which proteins are formed on the basis of the genetic code provided by RNA
ribosome
process of formation of spermatozoa (sperm)
spermatogenesis
mature male germ cell
spermatozoon
set of signs or symptoms (or both) occurring together
syndrome
portion of a chromosome attached to another chromosome
translocation
pair of chromosomes with an identical extra chromosome