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This document provides a comprehensive list and classification of various genetic disorders, their causes, and symptoms. It includes disorders caused by gene mutations, chromosomal abnormalities, and nondisjunction.
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What disorder is it? Mutation in the blood clotting protein makes person unable to stop bleeding after an injury _______________ Mutation in hemoglobin causes red blood cells to change shape and ____________________ clog up blood vessels Mutation causes mental retardation if foods containing phenylalanine are eaten _____________________ Three #21 chromosomes are present causing mental retardation _______________________ Mutation in ion channel protein causesthick mucous to clog up lungs and digestive organs _______________________ Hemophilia Sickle cell anemia Phenylketonuria (PKU) Down syndrome Cystic fibrosis
What disorder is it? Gradual deterioration of the brainthat appears during middle age ____________________ Progressive weakening of muscleproteins resulting in inability to walkand eventually death _________________________ Inability to distinguish betweenthe colors red and green _____________________ Only one X and no y chromosome ____________________ An X linked disorder (There is more than one right answer here) __________________ Huntington’s Muscular dystrophy Colorblindness Turner syndrome Muscular dystrophyColorblindness Hemophilia
Dominant/recessive?Autosomal/X-linked/nondisjunction Phenylketonuria ____________________ Down syndrome ____________________ Sickle cell anemia _____________________ Klinefelter syndrome ____________________ Huntington’s _______________________ Autosomal recessive nondisjunction Autosomal CODOMINANT nondisjunction Autosomal dominant
Dominant/recessive?Autosomal/X-linked/nondisjunction Turner syndrome ____________________ Cystic fibrosis ____________________ Hemophilia _____________________ Colorblindness __________________ Achondroplasia ____________________ Nondisjunction Autosomal recessive X-linked recessive X-linked recessive Autosomal dominant
What disorder is it? Phenylketonuria (PKU) Inability to break down phenylalanine ____________________eating food containing this amino acidcauses mental retardation Males with an extra X chromosome ______________________(XXY) karyotype; some female features;infertility Build up of lipids in brain causes blindness, retardation, early death __________________________ A autosomal Dominant disorder (There is more than one right answer here) __________________ Klinefelter syndrome Tay-Sach’s Huntington’s OR Achondroplasia
Name 3 disorders that are: Phenylketonuria (PKU) Tay-Sachs Cystic fibrosis Autosomal recessiveX linked recessive _______________ _______________ ________________ _______________ ________________ _______________ Hemophilia Colorblindness Muscular dystrophy Name 3 disorders that are caused by nondisjunction: ___________________ ___________________ ___________________ Down syndrome Turner’s syndrome Klinefelter’s syndrome
Name disorders that are: Autosomal Dominant ________________ ________________ Huntington’s Achondroplasia Autosomal Codominant ___________________ Sickle cell disease