Chromosomal Disorders
... meiosis, portions of the chromosome are lost. Chromosomal inversion: when cells go through meiosis, parts of the chromosome are flipped. Chromosomal translocation: when cells go through meiosis, parts of the chromosomes stick together and switch. Chromosomal non-disjunction: when cells go thro ...
... meiosis, portions of the chromosome are lost. Chromosomal inversion: when cells go through meiosis, parts of the chromosome are flipped. Chromosomal translocation: when cells go through meiosis, parts of the chromosomes stick together and switch. Chromosomal non-disjunction: when cells go thro ...
Autosomal & Chromosomal Disorders
... Most cases of DS are trisomy 21 Often DS is associated with some impairment of cognitive ability and physical growth as well as facial appearance. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by the age of the mother ...
... Most cases of DS are trisomy 21 Often DS is associated with some impairment of cognitive ability and physical growth as well as facial appearance. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by the age of the mother ...
Document
... • So, although genetic disorders have a similar origin (e.g missing part of chromosome), there may be great range of cognitive/ behavioural strengths and weaknesses within a syndrome. • Particular behaviours and cognitive profiles are more likely, but are not inevitable. • This means there can be gr ...
... • So, although genetic disorders have a similar origin (e.g missing part of chromosome), there may be great range of cognitive/ behavioural strengths and weaknesses within a syndrome. • Particular behaviours and cognitive profiles are more likely, but are not inevitable. • This means there can be gr ...
Autosomal & Chromosomal Disorders
... other types of DS (Mosaic and Translocation) . Often DS is associated with some impairment of cognitive ability and physical growth as well as facial appearance. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by the age ...
... other types of DS (Mosaic and Translocation) . Often DS is associated with some impairment of cognitive ability and physical growth as well as facial appearance. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by the age ...
Advanced Genetics: Karyotypes and Pedigrees
... • A change in a genetic trait • 1) chromosomal • 2) gene mutation ...
... • A change in a genetic trait • 1) chromosomal • 2) gene mutation ...
The University of Chicago Genetic Services Laboratories KIAA1279
... Mowat-Wilson syndrome (OMIM # 235730), has phenotypic overlap with GOSHS but is a genetically distinct disorder caused by mutations in the ZEB2 gene (5). Distinctive features of Mowat-Wilson syndrome include epilepsy, cortical malformations and agenesis of the corpus callosum which have not been wel ...
... Mowat-Wilson syndrome (OMIM # 235730), has phenotypic overlap with GOSHS but is a genetically distinct disorder caused by mutations in the ZEB2 gene (5). Distinctive features of Mowat-Wilson syndrome include epilepsy, cortical malformations and agenesis of the corpus callosum which have not been wel ...
Inheritance Patterns - Santa Susana High School
... – failure of a chromosome to separate during meiosis » if nondisjunction is of a single chromosome the zygote will either be monosomic or trisomic » if nondisjunction is of a entire genome the zygote will exhibit popolyploidy • Triploidy, tetraploidy, … • Very common in plants but not viable in anim ...
... – failure of a chromosome to separate during meiosis » if nondisjunction is of a single chromosome the zygote will either be monosomic or trisomic » if nondisjunction is of a entire genome the zygote will exhibit popolyploidy • Triploidy, tetraploidy, … • Very common in plants but not viable in anim ...
Guillain-Barre Syndrome
... GBS Eponym that encompasses acute immunemediated polyneuropathies Peripheral nerve myelin is target of an immune attack Starts at level of nerve root=conduction blocks & muscle weakness Eventually get widespread patchy demyel= increased paralysis ...
... GBS Eponym that encompasses acute immunemediated polyneuropathies Peripheral nerve myelin is target of an immune attack Starts at level of nerve root=conduction blocks & muscle weakness Eventually get widespread patchy demyel= increased paralysis ...
Kartagener`s syndrome: Case Report
... Department of Medicine, P.Dr.D.Y.Ptil Medical College, Pimpri , Pune , India. * Corresponding author : Email: [email protected] ...
... Department of Medicine, P.Dr.D.Y.Ptil Medical College, Pimpri , Pune , India. * Corresponding author : Email: [email protected] ...
Summer 2013 - Connective tissue disorders and pelvic floor muscle
... bind, and protect the organs of the body, such as bone, fascia, cartilage, muscle and skin. There are over 200 identified CTD’s with the majority of the disorders affecting women more than men. Some CTD’s are heritable, such as with Elhers-Danlos Syndrome, Marfan Syndrome and Osteogenesis Imperfecta ...
... bind, and protect the organs of the body, such as bone, fascia, cartilage, muscle and skin. There are over 200 identified CTD’s with the majority of the disorders affecting women more than men. Some CTD’s are heritable, such as with Elhers-Danlos Syndrome, Marfan Syndrome and Osteogenesis Imperfecta ...
notes
... Characteristic facial features, low mental ability, stocky build, sometimes heart defects. Extra copy of chromosome #21 – Trisomy 21 ...
... Characteristic facial features, low mental ability, stocky build, sometimes heart defects. Extra copy of chromosome #21 – Trisomy 21 ...
Mendelian Genetics Study Guide—AP Biology
... Be able to use the laws of probability/multiplication and additive rules (especially to solve complex problems)—Note: Read Section 14.2 in Campbell (pp. 258-259) Incomplete dominance—Concept understanding and ability to work these kinds of problems Codominance—Concept understanding and ability to re ...
... Be able to use the laws of probability/multiplication and additive rules (especially to solve complex problems)—Note: Read Section 14.2 in Campbell (pp. 258-259) Incomplete dominance—Concept understanding and ability to work these kinds of problems Codominance—Concept understanding and ability to re ...
Human Genetics - Cloudfront.net
... 4.2.4 – Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down syndrome (trisomy 21). ...
... 4.2.4 – Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down syndrome (trisomy 21). ...
• A genotype refers to person`s genetic heritage. For example:
... enlarged breasts, and tall stature. • Typically only males are affected. • Treatment includes hormone therapy. • Prenatal diagnosis is by CVS or amniocentesis. ...
... enlarged breasts, and tall stature. • Typically only males are affected. • Treatment includes hormone therapy. • Prenatal diagnosis is by CVS or amniocentesis. ...
Multiple-choice Questions:
... know his risk of hypertension, because his grandma has hypertension, but not severe. 3. Mrs C(28-year-old) is a patient of LHON, and her husband(32-year-old) is a patient of Duchenne Muscular Dystrophies (DMD).They plan to have a baby. Now they need your help, please consult for them. 4. Mrs D is pr ...
... know his risk of hypertension, because his grandma has hypertension, but not severe. 3. Mrs C(28-year-old) is a patient of LHON, and her husband(32-year-old) is a patient of Duchenne Muscular Dystrophies (DMD).They plan to have a baby. Now they need your help, please consult for them. 4. Mrs D is pr ...
Chapter 2 need to know
... • Cause: Recessive gene (victims are homozygous, but heterozygous subjects are also mildly affected) • Traits: Abnormal blood cells cause circulatory problems (e.g., heart enlargement) and severe anemia • Incidence: 8-9% of U.S. blacks • Outlook: Crippling, but treatable with medication ...
... • Cause: Recessive gene (victims are homozygous, but heterozygous subjects are also mildly affected) • Traits: Abnormal blood cells cause circulatory problems (e.g., heart enlargement) and severe anemia • Incidence: 8-9% of U.S. blacks • Outlook: Crippling, but treatable with medication ...
Worksheet: Human Genetic Disorders
... ___√___18. Sickle cell anemia is a blood disorder characterized by crescent shaped red blood cells. _______19. In the US, sickle cell anemia is most common among people whose families come from Europe. Should be Africa. ___√___20. PKU can cause severe mental retardation. ___√___21. Huntington is a r ...
... ___√___18. Sickle cell anemia is a blood disorder characterized by crescent shaped red blood cells. _______19. In the US, sickle cell anemia is most common among people whose families come from Europe. Should be Africa. ___√___20. PKU can cause severe mental retardation. ___√___21. Huntington is a r ...
Down Syndrome ( Trisomy 21 )
... Affected females reach puberty, develop secondary sex characteristics, and menstruate at the usual time. The genital tract is usually normal in females except for a report of a bicornuate uterus. In males, testes are often small, but spermatogenesis is thought to be ...
... Affected females reach puberty, develop secondary sex characteristics, and menstruate at the usual time. The genital tract is usually normal in females except for a report of a bicornuate uterus. In males, testes are often small, but spermatogenesis is thought to be ...
About 47,XXY (Klinefelter syndrome)
... SCA is associated with symptoms that vary along a continuum from mild to severe. The associated symptoms may include physical, hormonal, neurocognitive, psychiatric and social issues that can present functional challenges in daily life. Symptoms may include speech delay, low muscle tone and poor coo ...
... SCA is associated with symptoms that vary along a continuum from mild to severe. The associated symptoms may include physical, hormonal, neurocognitive, psychiatric and social issues that can present functional challenges in daily life. Symptoms may include speech delay, low muscle tone and poor coo ...
Cognitive Disabilities - University of Western Ontario
... -peri- and post-natal trauma (Asphyxia) -fetal infections (Rubella) -head injuries Specific Genetic Factors: 50-60% -chromosomal disorders (Down Syndrome) -genetic disorders (PKU, RETT, Lesch-Nyhan) ...
... -peri- and post-natal trauma (Asphyxia) -fetal infections (Rubella) -head injuries Specific Genetic Factors: 50-60% -chromosomal disorders (Down Syndrome) -genetic disorders (PKU, RETT, Lesch-Nyhan) ...
product know-how improves cognitive capacities of down`s
... Research Institute (IMIM) and Mara Dierssen from the Centre for Genomic Regulation (CRG) has shown that epigallocatechin gallate, a compound present in green tea, together with a cognitive stimulation protocol, improve the intellectual capacities of individuals with Down's ...
... Research Institute (IMIM) and Mara Dierssen from the Centre for Genomic Regulation (CRG) has shown that epigallocatechin gallate, a compound present in green tea, together with a cognitive stimulation protocol, improve the intellectual capacities of individuals with Down's ...
PowerPoint
... about 10% of the residents at his asylum resembled each other and could be easily distinguished from the rest of his patients • Took geneticists another 90 years to determine the correct human chromosome number and it was not until 1959 that it was known that individuals with Down Syndrome have 3 co ...
... about 10% of the residents at his asylum resembled each other and could be easily distinguished from the rest of his patients • Took geneticists another 90 years to determine the correct human chromosome number and it was not until 1959 that it was known that individuals with Down Syndrome have 3 co ...
080701Genes and chromosomes
... It is estimated that one in 25 people carry the recessive defective gene (on autosomal chromosome 7) for cystic fibrosis (CF). If two carriers have a baby, there is a 25% risk of it having CF. Incidence of CF in Western Europe is approximately one in 2,000 (Turnpenny and Ellard, 2007). The faulty ge ...
... It is estimated that one in 25 people carry the recessive defective gene (on autosomal chromosome 7) for cystic fibrosis (CF). If two carriers have a baby, there is a 25% risk of it having CF. Incidence of CF in Western Europe is approximately one in 2,000 (Turnpenny and Ellard, 2007). The faulty ge ...
Optional 4th quarter report
... Cancer and the cell cycle – possible mutations that cause cancer, drugs aimed at cell cycle enzymes, etc. Genetic Disorders – cystic fibrosis, sickle cell anemia. Albinism, PKU, Tay Sack’s Disease, Huntington’s Disease, Polydactyly, etc. – include the gene(s) involved, dominant or recessive, how the ...
... Cancer and the cell cycle – possible mutations that cause cancer, drugs aimed at cell cycle enzymes, etc. Genetic Disorders – cystic fibrosis, sickle cell anemia. Albinism, PKU, Tay Sack’s Disease, Huntington’s Disease, Polydactyly, etc. – include the gene(s) involved, dominant or recessive, how the ...
Karyotyping
... abnormalities from malformation or disease. It examines the size, shape, and number of chromosomes in a certain sample of cells. Extra, missing, or abnormal positions of chromosome pieces can cause problems with a person’s growth, development, and body functions. A few of the abnormalities that can ...
... abnormalities from malformation or disease. It examines the size, shape, and number of chromosomes in a certain sample of cells. Extra, missing, or abnormal positions of chromosome pieces can cause problems with a person’s growth, development, and body functions. A few of the abnormalities that can ...
Down syndrome
Down syndrome (DS or DNS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this varies widely.Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. Since the introduction of screening, pregnancies with the diagnosis are often terminated. Regular screening for health problems common in Down syndrome is recommended throughout the person's life.Education and proper care have been shown to improve quality of life. Some children with Down syndrome are educated in typical school classes, while others require more specialized education. Some individuals with Down syndrome graduate from high school and a few attend post-secondary education. In adulthood, about 20% in the United States do paid work in some capacity with many requiring a sheltered work environment. Support in financial and legal matters is often needed. Life expectancy is around 50 to 60 years in the developed world with proper health care.Down syndrome is one of the most common chromosome abnormalities in humans, occurring in about one per 1000 babies born each year. In 2013 it resulted in 36,000 deaths down from 43,000 deaths in 1990. It is named after John Langdon Down, the British doctor who fully described the syndrome in 1866. Some aspects of the condition were described earlier by Jean-Étienne Dominique Esquirol in 1838 and Édouard Séguin in 1844. The genetic cause of Down syndrome—an extra copy of chromosome 21—was identified by French researchers in 1959.