Document
... the syndrome” (pg 523). • 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. • Th ...
... the syndrome” (pg 523). • 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. • Th ...
Familial balanced translocation leading to an offspring
... stature (75th percentile), despite the deletion of the SHOX gene. In contrast, her mother and her grandfather, did not show features of mental retardation or congenital anomalies due to the 1q terminal duplication and had only short stature as clinical presentation (Balikova et al., 2007). Thus, it ...
... stature (75th percentile), despite the deletion of the SHOX gene. In contrast, her mother and her grandfather, did not show features of mental retardation or congenital anomalies due to the 1q terminal duplication and had only short stature as clinical presentation (Balikova et al., 2007). Thus, it ...
Dilated Cardiomyopathy
... Congenital Heart Diseases (CHD) present in 40-50% • Endocardial cushion defect – most common • Atrial septal defect with cleft mitral valve • Pulmonary Hypertention !!! ...
... Congenital Heart Diseases (CHD) present in 40-50% • Endocardial cushion defect – most common • Atrial septal defect with cleft mitral valve • Pulmonary Hypertention !!! ...
Chromosomal Disorders
... considerable reproductive evidence that they belong to the same species” » British Medical Journal ...
... considerable reproductive evidence that they belong to the same species” » British Medical Journal ...
Document
... 7 fails to replicate and, therefore, is missing. Caused by errors in cell division. Among the genes that are missing on chromosome 7 is a gene that controls the production of elastin, a protein that contributes to elasticity in internal organs and tissues. ...
... 7 fails to replicate and, therefore, is missing. Caused by errors in cell division. Among the genes that are missing on chromosome 7 is a gene that controls the production of elastin, a protein that contributes to elasticity in internal organs and tissues. ...
Handout
... • Also known as DiGeorge or Velocardiofacial Syndrome • Variable presentations with deletions in this chromosomal region • Many children have developmental delays, speech delay, and growth delays • Increased likelihood of ADHD and possible autism • Impacts 1 in 4,000 persons ...
... • Also known as DiGeorge or Velocardiofacial Syndrome • Variable presentations with deletions in this chromosomal region • Many children have developmental delays, speech delay, and growth delays • Increased likelihood of ADHD and possible autism • Impacts 1 in 4,000 persons ...
投影片 1
... A normal human cell contains 23 pairs of chromosomes which carry all of a person's genetic information. Due to several possible abnormal mechanisms of cell reproduction, patients with Down syndrome have an extra (third) copy of the 21st chromosome. Thus, Down syndrome is also called Trisomy 21. ...
... A normal human cell contains 23 pairs of chromosomes which carry all of a person's genetic information. Due to several possible abnormal mechanisms of cell reproduction, patients with Down syndrome have an extra (third) copy of the 21st chromosome. Thus, Down syndrome is also called Trisomy 21. ...
CONGENITAL HEART DEFECTS AND ASSOCIATED GENETIC DISORDERS The
... valvular, peripheral pulmonic stenosis or other obvious cause • Calcification of the mitral annulus 40 years • Dilatation or dissection of the descending thoracic or abdominal aorta 50 years • For cardiovascular system involvement: (1) major criterion or only (1) one of the minor ...
... valvular, peripheral pulmonic stenosis or other obvious cause • Calcification of the mitral annulus 40 years • Dilatation or dissection of the descending thoracic or abdominal aorta 50 years • For cardiovascular system involvement: (1) major criterion or only (1) one of the minor ...
Chromosomal Abnormalities
... Regular follow-up and management of medical conditions Treatment for the management of complications such as high blood pressure Assisted reproduction. ...
... Regular follow-up and management of medical conditions Treatment for the management of complications such as high blood pressure Assisted reproduction. ...
Mutations-Notes guide
... Name: _______________________________ Date: __________________ Hour:______ Mutations Notes (p. 239-240) 1. What are Mutations? ...
... Name: _______________________________ Date: __________________ Hour:______ Mutations Notes (p. 239-240) 1. What are Mutations? ...
Mutations Reading Guide
... Name: _______________________________ Date: __________________ Hour:______ Mutations Notes (p. 239-240) 1. What are Mutations? ...
... Name: _______________________________ Date: __________________ Hour:______ Mutations Notes (p. 239-240) 1. What are Mutations? ...
Angelman Syndrome: Genotype, Phenotype and Differential
... Abilities of mosaic ID> UPD > ID > UBE > Del ...
... Abilities of mosaic ID> UPD > ID > UBE > Del ...
Chromosomal Anomalies
... around the spinal cord, has pushed out through the opening in the vertebrae in a sac called the "meningocele." However, the spinal cord remains intact. This form can be repaired with little or no damage to the nerve pathways. 3. Myelomeningocele: This is the most severe form of spina bifida, in whic ...
... around the spinal cord, has pushed out through the opening in the vertebrae in a sac called the "meningocele." However, the spinal cord remains intact. This form can be repaired with little or no damage to the nerve pathways. 3. Myelomeningocele: This is the most severe form of spina bifida, in whic ...
LCI Grants Program - University of Colorado Denver
... The application must be relevant to Down syndrome and/or one of its associated symptoms, including (but not limited to) Alzheimer’s disease, cognitive deficits, cancer, and developmental abnormalities. The most successful applications will be those that directly address one or more of the “major cha ...
... The application must be relevant to Down syndrome and/or one of its associated symptoms, including (but not limited to) Alzheimer’s disease, cognitive deficits, cancer, and developmental abnormalities. The most successful applications will be those that directly address one or more of the “major cha ...
Document
... A neurological phenomenon in which one or both pupils is dilated and responds slowly or not at all to light and a near stimulus, accompanied by slow constriction and relaxation in the change from near to distant vision, and impaired accommodation. ...
... A neurological phenomenon in which one or both pupils is dilated and responds slowly or not at all to light and a near stimulus, accompanied by slow constriction and relaxation in the change from near to distant vision, and impaired accommodation. ...
Angelman Syndrome - Continuum of Care
... There is no available treatment or prevention at this time. Genetic counseling is available, but about 70-75% of cases are caused by spontaneously occurring abnormalities. Routine prenatal testing often misses these abnormalities since they are too small or require specialized testing looking specif ...
... There is no available treatment or prevention at this time. Genetic counseling is available, but about 70-75% of cases are caused by spontaneously occurring abnormalities. Routine prenatal testing often misses these abnormalities since they are too small or require specialized testing looking specif ...
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 ...
Genetic Diseases
... A karyotype of a person with Down syndrome is shown here. Which term is used to describe this type of genetic disorder? A) deletion B) recombination C) transformation D) trisomy ...
... A karyotype of a person with Down syndrome is shown here. Which term is used to describe this type of genetic disorder? A) deletion B) recombination C) transformation D) trisomy ...
View presentation
... GENETAQ has also developed three genomic profiles to assess health risks and personalize health interventions. These profiles are very useful in preventive anti-aging and sport medicine and for preventing obesity. ...
... GENETAQ has also developed three genomic profiles to assess health risks and personalize health interventions. These profiles are very useful in preventive anti-aging and sport medicine and for preventing obesity. ...
Wolf-Hirschhorn syndrome
... 30 and 60 months, many patients are never able to walk. Most of the patients do not develop active speech, only a few are able to make complex sentences. In those patients, first words were spoken between 18 and 48 months. The craniofacial phenotype resembles that of a Greek warrior helmet. The rec ...
... 30 and 60 months, many patients are never able to walk. Most of the patients do not develop active speech, only a few are able to make complex sentences. In those patients, first words were spoken between 18 and 48 months. The craniofacial phenotype resembles that of a Greek warrior helmet. The rec ...
Aim: What are some gene and chromosome mutations
... Some genetic tests can be detected at birth by simple tests that are now routinely performed in hospitals. One test can detect the presence of a recessively inherited disorder, phenyketonuria (PKU). ◦ This disorder occurs in one in 10,000 to 15,000 births. ◦ Individuals with this disorder accumulate ...
... Some genetic tests can be detected at birth by simple tests that are now routinely performed in hospitals. One test can detect the presence of a recessively inherited disorder, phenyketonuria (PKU). ◦ This disorder occurs in one in 10,000 to 15,000 births. ◦ Individuals with this disorder accumulate ...
I. Down Syndrome - Plain Local Schools
... Section Goal: The student will relate Down’s syndrome and non-separation of chromosomes, describe how chromosomes can be damaged and explain how a “jumping gene” can affect other genes. Vocabulary: 1. Trisomy 21 2. Down’s syndrome 3. Nondisjunction 4. Duplication 5. Deletion 6. Inversion 7. Transloc ...
... Section Goal: The student will relate Down’s syndrome and non-separation of chromosomes, describe how chromosomes can be damaged and explain how a “jumping gene” can affect other genes. Vocabulary: 1. Trisomy 21 2. Down’s syndrome 3. Nondisjunction 4. Duplication 5. Deletion 6. Inversion 7. Transloc ...
Karyotyping
... chromosome is present. Klinefelter’s syndrome is a disorder that affects male fertility, when at least one extra X chromosome is present. The Philadelphia chromosome is an abnormality in chromosome 22 in which part of chromosome 9 is transferred to it. Bone marrow cells containing this are often fou ...
... chromosome is present. Klinefelter’s syndrome is a disorder that affects male fertility, when at least one extra X chromosome is present. The Philadelphia chromosome is an abnormality in chromosome 22 in which part of chromosome 9 is transferred to it. Bone marrow cells containing this are often fou ...
Karyotyping and Pedigrees
... your Father? How many chromosomes come from your Mother? What are chromosome pairs 1-22 called? What is chromosome pair 23 called? ...
... your Father? How many chromosomes come from your Mother? What are chromosome pairs 1-22 called? What is chromosome pair 23 called? ...
080701Genes and chromosomes
... 2,000 (Turnpenny and Ellard, 2007). The faulty gene causing CF codes for the production of a protein which controls movement of salt and water in and out of cells. This results in too much salt and too little water passing into cells and body secretions. Secretions become thick and sticky, clogging ...
... 2,000 (Turnpenny and Ellard, 2007). The faulty gene causing CF codes for the production of a protein which controls movement of salt and water in and out of cells. This results in too much salt and too little water passing into cells and body secretions. Secretions become thick and sticky, clogging ...
DiGeorge syndrome
DiGeorge syndrome is also known as 22q11.2 deletion syndrome,DiGeorge anomaly, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome (CTAF) or Takao syndrome, Sedlackova syndrome, Cayler cardiofacial syndrome,Strong syndrome, congenital thymic aplasia, and thymic hypoplasia. This syndrome is caused by the deletion of a small piece of chromosome 22. As such, it is recommended that the name ""22q11.2 deletion syndrome (22q11.2DS)"" be used.22q11.2DS is the most common microdeletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chromosome at a location designated 22q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. The inheritance pattern is autosomal dominant and it has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge. 22q11 deletion is also associated with truncus arteriosus and tetralogy of Fallot.