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