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21

Genetic information Stored in chromosomes Number of chromosome pairs in humans

Term	Definition
Number of chromosome pairs in humans \| 23 pairs
Autosomes \| 22 pairs of non-sex chromosomes
Sex chromosomes \| One pair that determines sex (XX or XY)
Karyotype \| Visual representation of chromosomes arranged by size
Purpose of a karyotype \| Diagnosis of chromosomal disorders
Genotype \| Actual genetic information carried by an individual
Phenotype \| Expression of genes; physical appearance
Congenital disorders \| Disorders present at birth
Inherited disorder causes \| Single-gene expression, chromosomal defects, polygenic expression
Single-gene disorder \| Trait controlled by one set of alleles
Chromosomal anomalies \| Usually caused by errors during meiosis
Nondisjunction \| Failure of chromosomes to separate properly
Translocation \| Exchange of chromosome segments
Teratogenic agents \| Agents that damage embryonic or fetal development
Multifactorial disorders \| Disorders caused by genetic and environmental factors
Cause of some developmental disorders \| Premature birth or difficult labor
Example of developmental disorder \| Cerebral palsy
Inheritance patterns of single-gene disorders \| Recessive, dominant, X-linked recessive
Autosomal recessive disorder \| Both parents must pass on the allele
Carrier \| Heterozygous individual with no symptoms
Effect on genders in autosomal recessive disorders \| Males and females affected equally
Examples of autosomal recessive disorders \| Cystic fibrosis, PKU, Tay-Sachs disease
Delayed lethal genotype \| Disorder appears later in life after transmission
Examples of autosomal dominant disorders \| Huntington’s disease, Marfan syndrome
X-linked dominant disorder \| Affects both males and females
Reduced penetrance \| Decreased expression of a gene
Example of X-linked dominant disorder \| Fragile X syndrome
X-linked recessive disorder \| Gene located on X chromosome
Effect on males in X-linked recessive disorders \| Males commonly affected
Females with X-linked recessive disorder \| Usually carriers
Examples of X-linked recessive disorders \| Hemophilia A, Duchenne muscular dystrophy
Down syndrome \| Trisomy 21
Cause of Down syndrome \| Nondisjunction or translocation
Turner syndrome \| XO karyotype
Main effects of Turner syndrome \| Short stature and infertility
Klinefelter syndrome \| XXY karyotype
Main effect of Klinefelter syndrome \| Infertility
Multifactorial disorder examples \| Cleft palate, congenital heart disease, type 2 diabetes
TORCH infections \| Maternal infections causing congenital anomalies
Critical period for teratogen exposure \| First 2 months of development
Organogenesis \| Formation of organs
Alpha-fetoprotein test \| Maternal blood screening test
Amniocentesis \| In utero diagnostic test
Chorionic villi sampling \| Early prenatal diagnostic test
Neonatal testing \| Testing performed after birth
PKU screening \| Detects excreted metabolites
Genetic engineering \| Isolating, copying, and transplanting genes
Gene therapy \| Attempts to correct genetic disorders at the gene level
DNA testing \| Identifies individuals for genetic traits or paternity
Designer drugs \| Drugs tailored to an individual’s genotype
Proteomics \| Study of proteins related to gene expression
Risk factor for Down syndrome \| Increased maternal age
Confirmatory test for Down syndrome \| Amniocentesis or chorionic villi sampling
Common Down syndrome features \| Hypotonia, cognitive impairment, short stature
Single palmar crease \| Characteristic sign of Down syndrome

Created by: user-2019409

Term	Definition
Number of chromosome pairs in humans \| 23 pairs
Autosomes \| 22 pairs of non-sex chromosomes
Sex chromosomes \| One pair that determines sex (XX or XY)
Karyotype \| Visual representation of chromosomes arranged by size
Purpose of a karyotype \| Diagnosis of chromosomal disorders
Genotype \| Actual genetic information carried by an individual
Phenotype \| Expression of genes; physical appearance
Congenital disorders \| Disorders present at birth
Inherited disorder causes \| Single-gene expression, chromosomal defects, polygenic expression
Single-gene disorder \| Trait controlled by one set of alleles
Chromosomal anomalies \| Usually caused by errors during meiosis
Nondisjunction \| Failure of chromosomes to separate properly
Translocation \| Exchange of chromosome segments
Teratogenic agents \| Agents that damage embryonic or fetal development
Multifactorial disorders \| Disorders caused by genetic and environmental factors
Cause of some developmental disorders \| Premature birth or difficult labor
Example of developmental disorder \| Cerebral palsy
Inheritance patterns of single-gene disorders \| Recessive, dominant, X-linked recessive
Autosomal recessive disorder \| Both parents must pass on the allele
Carrier \| Heterozygous individual with no symptoms
Effect on genders in autosomal recessive disorders \| Males and females affected equally
Examples of autosomal recessive disorders \| Cystic fibrosis, PKU, Tay-Sachs disease
Delayed lethal genotype \| Disorder appears later in life after transmission
Examples of autosomal dominant disorders \| Huntington’s disease, Marfan syndrome
X-linked dominant disorder \| Affects both males and females
Reduced penetrance \| Decreased expression of a gene
Example of X-linked dominant disorder \| Fragile X syndrome
X-linked recessive disorder \| Gene located on X chromosome
Effect on males in X-linked recessive disorders \| Males commonly affected
Females with X-linked recessive disorder \| Usually carriers
Examples of X-linked recessive disorders \| Hemophilia A, Duchenne muscular dystrophy
Down syndrome \| Trisomy 21
Cause of Down syndrome \| Nondisjunction or translocation
Turner syndrome \| XO karyotype
Main effects of Turner syndrome \| Short stature and infertility
Klinefelter syndrome \| XXY karyotype
Main effect of Klinefelter syndrome \| Infertility
Multifactorial disorder examples \| Cleft palate, congenital heart disease, type 2 diabetes
TORCH infections \| Maternal infections causing congenital anomalies
Critical period for teratogen exposure \| First 2 months of development
Organogenesis \| Formation of organs
Alpha-fetoprotein test \| Maternal blood screening test
Amniocentesis \| In utero diagnostic test
Chorionic villi sampling \| Early prenatal diagnostic test
Neonatal testing \| Testing performed after birth
PKU screening \| Detects excreted metabolites
Genetic engineering \| Isolating, copying, and transplanting genes
Gene therapy \| Attempts to correct genetic disorders at the gene level
DNA testing \| Identifies individuals for genetic traits or paternity
Designer drugs \| Drugs tailored to an individual’s genotype
Proteomics \| Study of proteins related to gene expression
Risk factor for Down syndrome \| Increased maternal age
Confirmatory test for Down syndrome \| Amniocentesis or chorionic villi sampling
Common Down syndrome features \| Hypotonia, cognitive impairment, short stature
Single palmar crease \| Characteristic sign of Down syndrome

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