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19 Cards in this Set
- Front
- Back
XXY Syndrome |
Extra Y chromosome, above-average height, larage teeth, and sometimes severe acne. Normal to midly impaired intelligence. Male sexual development and fertility are normlal |
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Tripple X Syndrome |
Tallness and impaired verbal intelligence. Female sexual development and fertility are normal. |
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Klineiffer Syndrome |
Tallness, body fat, distribution resembling that of females, incomplete development of sex characteristics at puberty, sterility, and impaired verbal intelligence. Sex? |
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Turner Syndrome |
Short stature, webbed Neck, incomplete development of sex characteristics at puberty, sterility, and impaired spatial intelligence. Sex? |
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Cystic Fiborsis |
Recessive. Bronchial drainage, treatment of respiratiory infection, dietary management, advances in medical care allow survival with good life quality until adulthood |
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PKU |
Reccessive. Inability to metabolize the amino acid contained in many proteins causes severe central nervous system damage in the first year of life |
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Huntington disease |
Dominant. central nervous system degeneration leads to muscle coordination difficulties, mental deterioration, and personality changes. 35? |
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Tay-Sachs disease |
Recessive. Central nervous system degeneration with onset at about 6 months, leads to poor muscle tone, blindness, deafness, and convulsions. |
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Hemophilia |
Recessive. X linked Disease. Blood fails to clot normally; can lead to severe internal bleeding and tissue damage. |
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Amniocentesis |
The most widely used technique. A hallow needle is inserted through the abdominal wall to obtain a sample of the fluid in the uterus. Cells are examined for genetic defects (spineabifida) measures alpha feto protein. High=spina or kidney. Too low=downs or other. Can be performed by 16th-18 week after conception. 2-3 weeks required for test results. Gender |
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Chorionic Villus Sampling |
A procedure that can be used if results are desired or needed very early in the pregnancy. A thin tube is inserted into the uterus thourhg the vagina and a hallow needle goes into the abdominal wall. A small bit of tissue is remoeved from the chorionic villi. Cells are examined for genetic defects. Can be preformed at 8 weeks. High risk of miscarriage, limb deformaties. 24h or 2 weeks |
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Fetoscopy |
A small tube with a light source at one end is inserted into the uterus to inspect for defects of the limbs and face. Also allows a sample of fetal blood to be obtained. Permitting diagonsis of such disorders such as hemophilia and sickle cell anemia, as well as neural defects. 15-18 weeks, done as early as 5 weeks. Risk of miscarriage. |
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Ultrasound |
High-frequency sound waves are beamed at the uturus; their reflection is translated into a picture that shows size, shape, and placement of the fetus. Shows fetal age, detection of more fetus, and physical defects, guide aminocentesis, choronic villi sampling, and telscopy. Used 5 or more times. Can increase LBW |
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Downsyndrome |
Autosomal chromosomal abnormality. 3 copies of the 21st chromosome |
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Cri du Chat |
Autosomal Chromosomal Abnormality. Deletion of part of chromosome 5. Mental and motor retardation, small head, short in statue, hi pitched cry |
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Pre Implantation Genetic Diagonsis |
Taking healthy eggs and sperm to fertilize in a petri dish. When the cell divides into 8 cells, they observ them for genetic defects. The healthy cells get implanted. This can be used to prevent Tay Sach - a deadly recessive gene disorder (chromosome 14) |
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Rubella |
Critical period of pregancy 5th and 14th week. Can cause cardiac disorders, cataracts, deafness, mental delays. If at the fetal stage, worst effect is LBW |
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Syphilis |
Must be treated before 18 weeks because it can cause blindness, mental delays, and death. |
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Rh Incompatibility |
The antige RH factor in our blood, which is a dominant trait, can effect the baby if the mother's opposite antigen antibodies start to attach the babies antigens. They'll suffer from kemolitic disease, have little oxygen, cause ganious, heart failure, miscarriages, still births and mental deficiencies. |