ch 6 practice.docx

A neurologic disorder caused by degeneration of the basal ganglia and cortical regions of the brain and defect on chromosome 4: ____________ When both parents are heterozygous for the autosomal dominant gene, the child has ______% of being affected and ____% of being unaffected. Autosomal recessive...

A neurologic disorder caused by degeneration of the basal ganglia and cortical regions of the brain and defect on chromosome 4: ____________ When both parents are heterozygous for the autosomal dominant gene, the child has ______% of being affected and ____% of being unaffected. Autosomal recessive inheritance of a mutation involving two recessive alleles results in ________of the trait. Type of spinal bifida with incomplete closure with protrusion of meninges and cerebrospinal fluid: _______________ Diseases that are present at birth and are the result of gene-environment interactions that occur from fertilization until birth: __________________ The 5 causes of single gene disorders occurring at a specific, single site on the strand of DNA: _________________ The reproductive cells knowns as oocytes and sperm:_____________ Huntington disease is an _______________disorder. Condition in females characterized by alteration in chromosome number where one of the X chromosomes is missing or partially missing : _________________ People with identical alleles on each chromosome are…: __________________ The disorder inheritance pattern that is transmitted only to daughters: __________________ Failure of chromosome separation resulting in an unequal number of chromosomes between cells: _________________ What might be recommended for pregnant women to help prevent neural tube defects?: ______________ A sex linked genetic disorder that follows the mendelian inheritance patters and causes defects on X chromosomes: ______________________ Mitochondrial diseases are linked ________________and transmitted to ___________and_____________. Substances such as pathogens, drugs, alcohol, and environmental chemicals that can cause damage to developing embryos/fetuses: ____________________ Which 5 diseases are known to cause damage to the fetus if exposed and can be described by the acronym TORCH: _________________________ Double stranded DNA containing threadlike sections of genes found in the cell nucleus: _____________ In autosomal recessive inheritance patterns, if one parent is a carrier, the children will have a _______% change of being carriers. _____________ express sex linked disorders and __________ carry sex linked disorders: __________________ Which disorder inheritance pattern is transmitted by one homozygous and one non carrier parent or by two heterozygous parents: ________________________ Having two different alleles on each chromosome is: ___________________ Condition characterized by alteration in chromosome number; three copies of chromosome 21:____________________ Two conditions illustrating the influence of an imprinting defect on chromosome 15: ___________________ Autosomal dominant inheritance of a mutation involving one dominant allele results in __________ of the trait. A form of a gene that is more likely to be expressed in a person: ___________________ In sex linked disorders, when the mother is the carrier, _______ will have a 50% chance of being carriers and _________will have a 50% chance of being affected. The presence of three copies of a chromosome in a cell: ___________________ Mitochondrial diseases are related to _______________ production. Type of spinal bifida with incomplete closure with protrusion of meninges, cerebrospinal fluid, and spinal cord/nerve roots:________________________ Individuals who are heterozygous for a recessive gene mutation:_______________________ Difficulty in performing voluntary movements, common in huntingtins disease: _________________ Condition that results from disordered epigenetic regulation of imprinted genes, which are clustered together: ____________________ During gestation, the risk of damage from the environment is greatest during the _____________period. During this time, __________(the development of organ systems) is occurring. What is the allele configuration of autosomal dominant disorders?: _______________________________ A condition resulting from mutations in one of several genes found in mitochondria DNA: ___________ A picture of the number and visual appearance of chromosomes; can detect chromosome alterations: ________________ A group of serious birth defects involving the tissues of the nervous system (brain and spinal cord): _________________ Which disorder inheritance pattern is transmitted by one heterozygous parent?_______________________- A condition characterized by cognitive impairment, growth deficit, and physical disability and is linked to alcohol exposure to the fetus: ______________________________ In sex-linked disorders, when the father carries the gene, all _________will be carriers, and all ________ will be unaffected. Less influential genes, requiring homozygous alleles to be expressed:_________________________ This disease usually appears by mid-40s and manifests impaired movements, emotions, and cognition:_________________ The combination of cells with the regular chromosome number and those with an altered chromosome number:________________________ The heritable alterations in which the DNA is unchanged: __________________________ A RBC disorder that causes an alteration in hemoglobin shape:_________________________ The involvement of multiple alleles at different locations affecting phenotype: ________________- The mechanism that controls expression of genes based on parental origin: In autosomal recessive inheritance patterns, if both parents are carriers, ____% of children will be unaffected, ____% will be unaffected and ____% will become carriers: Type of spinal bifida with complete closure of vertebrae without profusion of the meninges or spinal cord: ______________________ Rapid, involuntary, repetitive movement of face, trunk, and limbs common in huntingtins disease: ______________________ Nondisjuction resulting in cells with one copy of a chromosome instead of two: ___________________ When one parent is heterozygous for the autosomal dominant gene, the child has _____% chance of having the disease and _____% of being unaffected: The allele configuration of autosomal recessive disorders is:_________________ The two allele configurations that make up sex linked disorders: ________________________________ Word Bank teratogens heterozygous Turner syndrome Autosomal dominant disorder Paternal x link depletion toxoplasmosis embryologic 25 herpes Nondisjunction daughters exposure heterozygous Recessive Autosomal recessive disorders myelomeningocele cytomegalovirus Down syndrome Congenital disorders Spina bifida occulta 75 dominant Maternal x link Huntington disease chemicals Prader Willi males meningocele 50 trisomy Fetal alcohol syndrome Huntington disease karyotype Folic acid (44mcg) rubella homozygous 50 duplication Autosomal dominant translocation 25 Sickle cell disease altitude sons Paternal x link daughters gametes homozygous insertion organogenesis MELAS 50 Other(hepatits) Angelman syndrome mosaicism carriers Beckwith-Wiedemann syndrome Maternal x link expression nutrition Polygenic inheritance monosomy 25 dyskinesia Genomic imprinting Fragile x syndrome Epigenetic inheritance Maternal linked sons sons 50 daughters chorea energy chromosomes inversion Neural tube defects females Answers A neurologic disorder caused by degeneration of the basal ganglia and cortical regions of the brain and defect on chromosome 4: Huntington disease When both parents are heterozygous for the autosomal dominant gene, the child has ______% of being affected and ____% of being unaffected: 75/25 Autosomal recessive inheritance of a mutation involving two recessive alleles results in ________of the trait. Exposure Type of spinal bifida with incomplete closure with protrusion of meninges and cerebrospinal fluid: meningocele Diseases that are present at birth and are the result of gene-environment interactions that occur from fertilization until birth: congenital disorders The 5 causes of single gene disorders occurring at a specific, single site on the strand of DNA: depletion/duplication/inversion/translocation/Insertion The reproductive cells knowns as oocytes and sperm: gametes Huntington disease is an _______________disorder: autosomal dominant disorder Condition in females characterized by alteration in chromosome number where one of the X chromosomes is missing or partially missing : turner syndrome People with identical alleles on each chromosome are…: homozygous The disorder inheritance pattern that is transmitted only to daughters: paternal x link Failure of chromosome separation resulting in an unequal number of chromosomes between cells: nondisjunction What might be recommended for pregnant women to help prevent neural tube defects?: Folic Acid (44mcg) A sex linked genetic disorder that follows the mendelian inheritance patters and causes defects on X chromosomes: Fragile X syndrome Mitochondrial diseases are linked ________________and transmitted to ___________and_____________: maternal linked/daughters/sons Substances such as pathogens, drugs, alcohol, and environmental chemicals that can cause damage to developing embryos/fetuses: teratogens Which 5 diseases are known to cause damage to the fetus if exposed and can be described by the acronym TORCH: toxoplasmosis/Other (hepatitis)/Rubella/Cytomegalovirus/Herpes Double stranded DNA containing threadlike sections of genes found in the cell nucleus: chromosomes In autosomal recessive inheritance patterns, if one parent is a carrier, the children will have a _______% change of being carriers:50 _____________ express sex linked disorders and __________ carry sex linked disorders: Males/females Which disorder inheritance pattern is transmitted by one homozygous and one non carrier parent or by two heterozygous parents: autosomal recessive disorders Having two different alleles on each chromosome is: heterozygous Condition characterized by alteration in chromosome number; three copies of chromosome 21:Down Syndrome Two conditions illustrating the influence of an imprinting defect on chromosome 15: Prader Willi/ Angelman Syndrome Autosomal dominant inheritance of a mutation involving one dominant allele results in __________ of the trait: expression A form of a gene that is more likely to be expressed in a person: dominant In sex linked disorders, when the mother is the carrier, _______ will have a 50% chance of being carriers and _________will have a 50% chance of being affected: daughters/sons The presence of three copies of a chromosome in a cell: trisomy Mitochondrial diseases are related to _______________ production: energy Type of spinal bifida with incomplete closure with protrusion of meninges, cerebrospinal fluid, and spinal cord/nerve roots: myelomeningocele Individuals who are heterozygous for a recessive gene mutation: carriers Difficulty in performing voluntary movements, common in huntingtins disease: dyskinesia Condition that results from disordered epigenetic regulation of imprinted genes, which are clustered together: Beckwith-Wiedemann Syndrome During gestation, the risk of damage from the environment is greatest during the _____________period. During this time, __________(the development of organ systems) is occurring: embryologic/organogenesis What is the allele configuration of autosomal dominant disorders?: heterozygous A condition resulting from mutations in one of several genes found in mitochondria DNA: MELAS A picture of the number and visual appearance of chromosomes; can detect chromosome alterations: karyotype A group of serious birth defects involving the tissues of the nervous system (brain and spinal cord): neural tube defects Which disorder inheritance pattern is transmitted by one heterozygous parent?: autosomal dominant A condition characterized by cognitive impairment, growth deficit, and physical disability and is linked to alcohol exposure to the fetus: Fetal Alcohol Syndrome In sex-linked disorders, when the father carries the gene, all _________will be carriers, and all ________ will be unaffected: daughters/sons Less influential genes, requiring homozygous alleles to be expressed: recessive This disease usually appears by mid-40s and manifests impaired movements, emotions, and cognition:huntingtons disease The combination of cells with the regular chromosome number and those with an altered chromosome number: mosaicism The heritable alterations in which the DNA is unchanged: epigenetic inheritance. A RBC disorder that causes an alteration in hemoglobin shape:sickle cell disease The involvement of multiple alleles at different locations affecting phenotype: polygenic inheritance The mechanism that controls expression of genes based on parental origin: genomic imprinting In autosomal recessive inheritance patterns, if both parents are carriers, ____% of children will be unaffected, ____% will be unaffected and ____% will become carriers: 25/25/50 Type of spinal bifida with complete closure of vertebrae without profusion of the meninges or spinal cord: Spina bifida occulta Rapid, involuntary, repetitive movement of face, trunk, and limbs common in huntingtins disease: chorea Nondisjuction resulting in cells with one copy of a chromosome instead of two: monosomy When one parent is heterozygous for the autosomal dominant gene, the child has _____% chance of having the disease and _____% of being unaffected: 50/50 The allele configuration of autosomal recessive disorders is: homozygous The two allele configurations that make up sex linked disorders: paternal x link/maternal x link