Congenital & Hereditary Diseases
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| show | congenital
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| show | trisomy
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| show | three of a given pair of chromosomes instead of usual pair
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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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| show | 45, X
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| Triple X syndrome can be associated with | show 🗑
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| show | mental deficiency
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| x-linked autosomal diseases can become symptomatic in | show 🗑
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| trisomy of 12 autosomes will not be compatible with | show 🗑
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| show | environmental factors
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| culture of amnionic cells is important in order to | show 🗑
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| show | amniocentesis
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| transfer of piece of one chromosome to a nonhomologous chromosome | show 🗑
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| congenital syndrome usually caused by absence of one X chromosome in the female | show 🗑
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| congenital syndrome caused by extra X chromosome in male | show 🗑
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| show | testicular atrophy, sterility, feminine body configuration, & subnormal intelligence
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| congenital syndrome caused by extra chromosome 21 | show 🗑
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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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| protein produced by fetal liver early in gestation | show 🗑
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| show | tumor cells
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| show | fetus has neural tube defect
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| one X chromosome is inactivated | show 🗑
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| show | X-linked
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| show | to his daughters and none to his sons
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| a woman will transmit one copy of each X-linked gene | show 🗑
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| show | expression of some genes
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| examples environmental factors that can influence a child's development include: | show 🗑
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| show | genetically determined diseases
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| show | environmental teratogens
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| show | teratogen
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| permanent transmissible change in genetic material, usually in single gene, although sometimes used to include gross alterations in chromosomal structure | show 🗑
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| show | genetic or hereditary disorders or diseases
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| any abnormality present at birth | show 🗑
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| show | factors in congenital malformations
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| show | congenital defects
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| show | later as infants grow older
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| 25% to 50% spontaneously aborted embryos, fetuses, and stillborn infants have | show 🗑
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| failure of homologous chromosomes in germ cells to separate in first or second meiotic division | show 🗑
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| show | autosomes
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| show | germ cells
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| show | lacks a chromosome
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| show | deletion
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| variations in normal number of sex chromosomes are often associated with some reduction of | show 🗑
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| show | Y chromosome
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| no significant effect as it mainly carries genes concerned with male sexual differentiation | show 🗑
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| body configuration is female | show 🗑
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| show | extra X chromosome
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| has adverse effects on male development | show 🗑
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| extra X chromosome | show 🗑
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| show | XYY Syndrome
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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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| Fragile X Syndrome causes | show 🗑
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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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| most common chromosomal abnormality: 1:600 births/manifestations: mental deficiency, cardiac malformation, major defects in other organ systems | show 🗑
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| Cleft lip and palate; abnormal development of skull, brain, and eyes; congenital heart defect; polydactyly is caused by | show 🗑
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| show | trisomy of chromosome 18
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| are usually fatal in the neonatal period or in early infancy | show 🗑
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| leads to formation of gametes with an extra or missing chromosome. | show 🗑
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| show | translocation Down syndrome
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| show | chromosome 21
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| in translocation Down syndrome total number of chromosomes not increased but genetic material is equivalent to | show 🗑
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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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| translocation chromosome is not always transmitted normal fetus, child becomes carrier, nonviable fetus, Down Syndrome can occur when | show 🗑
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| most hereditary diseases are transmitted | show 🗑
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| few hereditary diseases are carried on | show 🗑
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| autosomal dominant inheritance, autosomal recessive inheritance, codominant inheritance, X-linked inheritance are all possible for transmission of | show 🗑
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| 3rd–8th week after conception: embryo is most vulnerable to ___ ___ as organ systems are still forming | show 🗑
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| combined effect of multiple genes interacting with environmental agents | show 🗑
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| show | examination of fetal cells
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| show | examination of amniotic fluid
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| test used to detect major structural abnormalities, i.e. structural abnormalities of nervous system, hydrocephalus, obstruction of urinary tract, failure of kidneys to develop, failure of limbs to form normally | show 🗑
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| show | anencephaly &; spina bifida
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| show | fetal DNA analysis
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| show | amniocentesis & chorionic villus sampling
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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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| show | Chorionic villi
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| show | advantages of chorionic villus sampling
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| show | disadvantages of chorionic villus sampling
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Created by:
lfrancois
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