Karyotypes & Disease.

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Presentation transcript:

Karyotypes & Disease

Human Genetics & Disease POLYGENIC 1 (in the amniotic fluid!) NEEDLE FETAL IMAGE DETERMINE

GENETIC DISORDERS BLOOD SEX-LINKED RECCESIVE DEATH XnXn or XnY 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 INFERTILE XXY 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 CHROMOSOMES HOMOLOGOUS CHROMOSOME 44 2

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 Full set of male chromosomes (XY) AND full set of female chromosomes (XX) XXXY 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 FEMALE XX MALE XY PAIRS/INDIVIDUAL HEMAPHRODITE YES #21 and Sex Chromosomes NO