Congenital & Hereditary Diseases
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| show | congenital
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| presence of extra chromosome within a cell | show 🗑
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| an example of trisomy is having | show 🗑
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| condition of a cell in which one chromosome of homologous pair is missing | show 🗑
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| nondisjunction can lead to the chromosomal abnormalities of | show 🗑
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| individuals with Turner's syndrome have chromosomes of the configuration | show 🗑
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| show | decreased mental capacity
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| show | mental deficiency
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| show | males
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| trisomy of 12 autosomes will not be compatible with | show 🗑
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| depending on genetic makeup, an embryo will be more or less susceptible to malformation from | show 🗑
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| show | determine karyotype
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| chorionic villus sampling provides the same information as | show 🗑
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| transfer of piece of one chromosome to a nonhomologous chromosome | show 🗑
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| show | Turner syndrome
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| show | Klinefelter syndrome
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| Klinefelter syndrome is characterizes by | show 🗑
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| show | Down syndrome
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| change in structure of gene, which may alter its functions | show 🗑
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| show | sickle hemoglobin
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| congenital malformation; absence of brain, cranial vault, & scalp as result of defective closure of neural tube | show 🗑
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| show | spina bifida
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| show | cystic spina bifida
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| show | alpha fetoprotein
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| show | tumor cells
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| alpha fetoprotein level is elevated in amniotic fluid when | show 🗑
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| show | Lyon Hypothesis
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| show | X-linked
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| show | to his daughters and none to his sons
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| show | to each daughter or son
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| environmental factors can affect | show 🗑
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| show | nutritional patterns and health care
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| result from abnormalities of individual genes on the chromosomes | show 🗑
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| some abnormalities of individual genes on the chromosomes, arise spontaneously, while others may be caused by | show 🗑
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| show | teratogen
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| show | mutation
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| caused by abnormalities in an individual’s genome | show 🗑
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| show | congenital disease or malformation
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| chromosomal abnormalities, abnormalities of individual genes, intrauterine injury, or environmental factors | show 🗑
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| 2-3% of all newborn infants have | show 🗑
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| additional 2-3% of developmental defects are demonstrated | show 🗑
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| show | major congenital malformations
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| show | nondisjunction
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| show | autosomes
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| nondisjunction causes abnormalities in distribution of chromosomes between | show 🗑
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| in nondisjunction, one of two germ cells has an extra chromosome while the other | show 🗑
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| chromosome breaks during meiosis and broken piece is lost | show 🗑
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| show | intelligence
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| directs masculine sexual differentiation, associated with male body configuration regardless of number of X chromosomes present | show 🗑
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| show | extra Y chromosome
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| body configuration is female | show 🗑
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| has little effect (one X chromosome is inactivated) | show 🗑
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| show | extra X chromosome in males
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| show | Triple X Syndrome
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| extra Y chromosome | show 🗑
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| most common chromosome abnormalities, in the female | show 🗑
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| most common chromosome abnormalities, in the male | show 🗑
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| show | x-linked mental deficiency
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| show | Fragile X Syndrome
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| show | Down syndrome
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| show | absence of an autosome
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| show | deletion of a small part of an autosome
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| show | Down syndrome
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| show | small chromosome 21
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| in Down syndrome extra chromosome 21 acquired as part of the | show 🗑
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| show | nondisjunction occurring in zygote
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| show | trisomy of chromosome 13
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| associated with multiple severe congenital abnormalities | show 🗑
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| show | both 13 and 18 trisomies
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| show | nondisjunction in meiosis
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| occurs in small number of persons with Down syndrome | show 🗑
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| show | chromosome 21
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| show | 47 chromosomes
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| show | both parents have normal chromosome cells
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| show | 14/21 carrier in one of the parents
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| show | female carrier
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| show | on autosomes
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| few hereditary diseases are carried on | show 🗑
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| show | genetically determined diseases
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| show | maternal infections
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| combined effect of multiple genes interacting with environmental agents | show 🗑
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| test to determine biochemical abnormalities in fetal cells i.e.: chromosomal abnormalities, biochemical abnormalities, analysis of DNA | show 🗑
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| tested because products secreted into fluid by fetus that may indicate fetal abnormality | show 🗑
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| show | ultrasound examination
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| show | anencephaly &; spina bifida
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| determination of biochemical abnormalities by analysis of DNA of fetal cells | show 🗑
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| tests used to determine fetal DNA analysis | show 🗑
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| amniotic fluid for study, usually performed between the 14th and 18th week of pregnancy | show 🗑
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| show | primary use of transabdominal amniocentesis
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| frond-like structures that form part of placenta and attach to lining of uterus | show 🗑
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| show | advantages of chorionic villus sampling
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| more difficult technically than amniocentesis & complications include spontaneous abortion, limb deformities in fetus | show 🗑
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