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Karyotypes & Disease. Human Genetics & Disease. POLYGENIC. 1. (in the amniotic fluid!). FETAL. NEEDLE. IMAGE. DETERMINE. GENETIC DISORDERS. BLOOD. SEX-LINKED RECCESIVE. X n X n or X nY. DEATH. BRAIN. AUTOSOMAL DOMINANT. BRAIN. NN or Nn. PROTEIN. AUTOSOMAL RECCESIVE.
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Human Genetics & Disease POLYGENIC 1 (in the amniotic fluid!) FETAL NEEDLE IMAGE DETERMINE
GENETIC DISORDERS BLOOD SEX-LINKED RECCESIVE XnXn or XnY DEATH BRAIN AUTOSOMAL DOMINANT BRAIN NN or Nn PROTEIN AUTOSOMAL RECCESIVE MENTAL PHYSICAL nn AUTOSOMAL RECCESIVE CURABLE with DIET!!! nn
SICKLE AUTOSOMAL RECCESIVE STICKY nn OXYGEN 1 NON-DISJUNCTION INFERTILE X_ or X0 EXTRA PHYSICALLY NON-DISJUNCTION 3 on #21 CURED DETECTED X NON-DISJUNCTION XXY INFERTILE LANGUAGE PROTEIN AUTOSOMAL RECCESIVE STICKY nn DEATH
Genetic Disorders Video Clips • Sickle Cell Anemia: http://www.youtube.com/watch?v=qRt2auWkcYg&feature=related • Huntington's Disease: http://www.youtube.com/watch?v=MRZoM5L5dak • TaySach's Disease: http://www.youtube.com/watch?v=SeoPF74QSms • PKU: http://www.youtube.com/watch?v=hpaki7F4HR0&feature=related • Hemophelia: http://www.youtube.com/watch?v=OeT2cxgmxF0&feature=related • Turners: http://www.youtube.com/watch?v=ldjb-FR-PKo • Klinefelters: http://www.youtube.com/watch?v=QUBcDzcXRsY • Downs: http://www.youtube.com/watch?v=XGZnO5Im5bM • Cystic Fibrosis: http://www.youtube.com/watch?v=l0dDhKFk2HU&feature=related
KARYOTYPES HOMOLOGOUS CHROMOSOME CHROMOSOMES 2 44
Common Chromosomal Disorders(can be detected on Karyotype!) Too many chromosomes XXY Extra X chromosome Genetically MALE because of the Y chromosome X_ or X0 Too few chromosomes – missing 2nd X Genetically FEMALE XXXY Full set of male chromosomes (XY) AND full set of female chromosomes (XX) Too many chromosomes 3 on #21 Extra chromosome on #21 ALL caused by NON-DISJUNCTION of chromosomes
So, what does this look like… Kleinfelter’s Syndrome (Male) Normal Female Normal Male Turner’s Syndrome (Female) Down’s Syndrome
How to read a Karyotype… SEX/GENDER XX FEMALE MALE XY PAIRS/INDIVIDUAL HEMAPHRODITE YES #21 and Sex Chromosomes NO