…And, Sex Linked Traits Color Blindness Hemophilia
Chromosomal Disorders …are usually caused by an error in cell division Karyotype!
Down Syndrome=Trisomy 21 A young boy with Down syndrome members.aol.com/InitiativeDo wn/index.htmmembers.aol.com/InitiativeDo wn/index.htm
This is what a karyotype of a girl with downs syndrome would look like www.millerandlevine.co m/genome/ six.html
http://www.infobiogen.fr/services/chromcancer/IntroItems/PolyTri21Eng.html Some physical characteristics of individuals with DS…
Edward’s Syndrome=Trisomy 18 Dakota, a young boy with Edward’s syndrome www.childrenofpromise. net/ dakotaphotos.html
Mental retardation Undescended testicles in malesUndescended testiclesmales Prominent back portion of the head head Small head (microcephaly)microcephaly Low-set, malformed earsmalformed ears Abnormally small jaw (micrognathia)micrognathia Small mouth Cleft lip/Cleft palateCleft lipCleft palate Upturned nose Narrow eyelid folds (palpebral fissures)palpebral fissures Growth deficiency Feeding difficulties Breathing difficulties Developmental delays Characteristics of Edward’s Syndrome
A karyotype of a male with Edward’s syndrome www.iupui.edu/~marrs/N 100/ch10.html
Patau’s Syndrome=Trisomy 13 Meet Nicholas Wright the very proud son of Mark and Jayne Wright of Hudson, Illinois USA Nicholas was born with Trisomy 13. www.trisomyonline.org/ wright.htm
Characteristics of Patau’s Syndrome Most embryos with trisomy 13 do not survive gestation and are spontaneously aborted. Of those surviving to term gestation, approximately 82-85% do not survive past 1 month of age, and 85-90% do not survive past 1 year of age. Central Nervous System malformations (no forebrain development) long term neurological disability, feeding difficulty, and frequent pneumonia and other respiratory infections. pneumonia *There have been 5 cases reported in the medical history of patients living beyond 10 years of age
Super Female Syndrome (Trisomy X) Females with Trisomy X are healthy and cannot be distinguished from (XX) females excepts by karyotype (shown) http://www.biology.iupui.e du/biocourses/N100/image s/XXXFemale.gif
Super Male Syndrome (XYY Syndrome) This syndrome is not well characterized although males that have XYY tend to be slightly taller than average Studies have shown that a large number of men imprisoned are XYY
Other Genetic Disorders… Cri du Chat (Deletion on part of #5) Characteristics: “Cry of the cat," referring to the distinctive cry of children with this disorder Abnormal larynx development, which becomes normal within a few weeks of birth Low birth weight Respiratory problems Sometimes shortened lifespan…but usually normal life expectancy http://www.findhealer.com/glossary/images/cri duchat.gif
Fragile X Syndrome: Duplication of a piece of the X Chromosome Most common form of mental retardation Hyperactivity Short attention span Negative response to touch Hand-flapping Hand-biting Poor eye contact Repetition of words/phrases Double jointed Large or prominent earsprominent ears Large testicles
Single Gene Traits Sickle Cell Anemia Inherited blood disorder (recessive) Mostly affects people of African ancestory 1 in 12 African Americans have it Affects hemoglobin (which carries oxygen in blood) and makes Red Blood Cells sticky Interesting correlation between sickle cell and increased resistance to malaria
Cystic Fibrosis Inherited chronic disease that affects lungs and digestive system Defective gene causes the body to produce unusually thick, sticky mucus
Huntington’s Disease Hereditary brain disorder that diminishes ability to walk, think, talk, and reason Onset usually between the ages of 30-45
Tay-Sachs Disease Lipid accumulation in brain cells; mental deficiency; blindness; death in early childhood
Autism 3 distinctive behaviors that characterize autism: -difficulties with social interaction -problems with verbal and nonverbal communication -repetitive behaviors or narrow, obsessive interests. These behaviors can range in impact from mild to disabling
Sex-Linked Traits …linked to the sex chromosomes Color Blindness Hemophilia Both are usually found in males only- why??
Half shaded=carrier; If III-2 and III-3 have a child (I know...weird), what are the odds of it getting the “disease”?