Prader-Willi Syndrome

Slides:



Advertisements
Similar presentations
Honors Biology Genetic Disorders.
Advertisements

Prader-Willi Syndrome By Joey Valenti. How is Prader-Willi Syndrome Inherited? 70% of people have the syndrome because of deletion -- The q12 band of.
Cri du Chat By: Taylor Palacino.
Genetic Disorders Autosomal and Sex-linked. HOW DO WE GET GENETIC DISORDERS? Nondisjunction – failure of chromosomes to separate during cell division.
Sickle Cell Anemia Blood disorder, inherited disease where a person inherits a mutant gene form each parent for the manufacture of hemoglobin. Red blood.
Genetic Diseases.
PRADER-WILLI SYNDROME
Turner Syndrome. What is Turner Syndrome? n A disorder in women caused by an inherited chromosomal defect n This disorder inhibits sexual development.
Human Genetic Disorders
Most mammals have one pair of sex chromosomes Males Females
TURNER sYNDROME By: Jazmin Barnes.
Turner syndrome(XO) By- Christine & Harpreet!.
LIVING WITH PRADER-WILLI SYNDROME. WHAT IS PRADER-WILLI SYNDROME? PWS is a complex genetic disorder that typically causes low muscle tone, short stature,
NOTES 24 – Genetic Disorders and Hereditary Diseases
PRADER-WILLI SYNDROME Amber Rice. General Information Also known as Prader-Labhart-Willi syndrome Also known as Prader-Labhart-Willi syndrome Non-inherited.
Human Genetics.
Shelby Herstine, Fillie Landi, Mike LeBus
Human Genetic disorders
Genetic Disorders.
GENETIC DISORDERS. A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation.
Fragile X Syndrome Priya Sankaran.
GENETIC DISEASES: HUNGTINGTON DISEASE AND CRI DU CHAT SYNDROME.
Hemoglobin. Sickle cell anemia is a genetic blood disorder, caused by a single mutation in the gene for hemoglobin. It is found primarily in people of.
Sally Freese Family and Consumer Science
Prader – Willi Syndrome By Ria Gulati & Ami Bulsara Period 4.
Prader-Willie Syndrome
Background The disease first appeared in the medical literature when endocrinologists Prader, Labhart, and Willi published a report describing an unusual.
Chromosomal Abnormalities. Can occur during meiosis: During the S phase of cell cycle – mistakes in making sister chromatids. During prophase 1 – when.
Done by Angham Abdul Kareem Supervised by Prof.Taha kumosani.
Chromosomal Karyotypes. Chromosomes Definition Genetic structures of cells containing DNA Identification Each chromosome has a characteristic length and.
Tracing the Inheritance of the Human Y Chromosome
Chromosomes & Karyotypes
Pedigrees & Karyotypes
By Jayla Harris.   Turner syndrome is a disorder caused by the loss of genetic material from one of the sex chromosomes.  Turner syndrome (TS) is a.
Angelman and Prader Willi Syndromes
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display Forming a New Life: Conception, Heredity, and Environment.
Genetic Mutations. Mutations New inherited traits, or mutations, may appear in a strain of plant or animal. The first individual showing the new trait.
Year 10 Science Health and disease
Chromosomal Aberrations Can be caused either by –non-disjunction (failure of whole chromosomes to separate during meiosis) –translocation (bits of chromosomes.
Care Connection for Children Our Most Difficult Cases Debbie Osborne R.N., M.B.A.
CHROMOSOMAL ABNORMALITIES
Human Genetic Disorders
Prader-Willi Syndrome this presentation created by
Genetics & Related Disorders Terms and Symptoms. 2 Terms You Must Know… Diploid – number of chromosomes in most body cells. Humans have 46. Haploid –
Chromosomal Microdeletions: Prader-Willi and Angelman Syndromes
Karyotyping Notes and Activity Pages PAP Biology.
Notes and Activity Pages
Human Genetic Disorders Every cell in the human body has 46 chromosomes except for gametes, egg sperm cells, which contain 23 or the haploid number. Human.
Cri-du-chat Syndrome By: Maddy Gordon. What is Cri-du-chat syndrome? Cri-du-chat syndrome is a rare chromosomal condition that results when a piece of.
Genetic Mutations. Remember! XX = Female XY = Male Normal # of Chromosomes in Humans = 46 (2 Sex Chromosomes and 44 Body Chromosomes)
Human Genetics – Studying Chromosomes & Diseases.
Presented By: Stephanie Asselstine & Jessica Williams.
 Pedigree Questions: 1. A circle represents a ________________ 2. A square represents a _____________ 3. A ___________ line connects a circle and square.
Chromosomal aberrations Sometimes entire chromosomes can be added or deleted, resulting in a genetic disorder such as Trisomy 21 (Down syndrome). These.
Prader Willi Syndrome Chelsi Anderson. Definition  Rare disorder present at birth that results in a number of physical, mental and behavior problems.
Mackenzie Walsh.  Dr. Harry Angelman noticed a condition in 3 children  He was a British pediatrician  Early 1980s- more cases were reported.
Klinefelter Syndrome Santina King. Researched and developed by Dr. Harry Klinefelter - father of endocrinology Klinefelter syndrome is the occurrence.
What it is. Down Syndrome is a congenital disorder in which the genetic material causes an abnormal development of children and often leads to mental.
PRADER WILLI Syndrome.
Tracing the Inheritance of the Human Y Chromosome
Prader –Willi Syndrome
Genetic and Environmental Foundation
Pedigrees & Karyotypes
Genetic Disease It only takes one gene!.
Cri du Chat Ilana Horton.
Genetic Disorders – Chromosome Disorders
Genetic Mutations.
Chelsi Anderson Brad Solberg
Presentation transcript:

Prader-Willi Syndrome Kalena Spinola

Description A cogential (present from birth) disease, affecting many parts of the body. People with this condition are often obese, have reduced muscle tone, mental ability, and produce little or no sex hormones.

Symptoms Physical Almond Shaped Eyes Short Stature Small Hands & Feet Behavior Problems Obsessive/Compulsive Actions Depression Quick Temper

Symptoms Infants-Childhood Weak Muscle Tone Trouble Eating Sleep Abnormalities Body Temperature Delayed Motor Development Mental Retardation

Symptoms Adolescence-Adulthood Delayed Puberty Obesity Food Cravings Leads to: Diabetes High Blood Pressure Joint/Lung Problems

Effecting Traits Population Affects 1 in 10,000-25,000 births Occurs in all Races Effects Male & Female Affects 1 in 10,000-25,000 births Life Expectancy Normal

Inheritance Chromosome 15 Deletion Alterations Locus: 15q11-q13 Chromosome Partial Deletion Deletion of Entire Chromosome Maternal Disomy Imprinting Defect Chromosome

Reproduction Spontaneous genetic disorder Random occurance Reproduction is normal

Causes Normal Development Depends on Chromosome 15 Effects Hypothalamus Region registers feelings of hunger Lack of muscle mass Fewer calories burned-Obesity

Treatments/Cures No Whole Cure Various Therapies Physical, Speech, Occupational, etc Special Feeding TEchniques Strict Diet/Weight Control

Additional Information Most common genetic cause of obesity Can be detected before birth PWS-like disorder can be developed

Resources http://www.pwsausa.org/ http://www.ipwso.org/