Congenital & Hereditary Diseases
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| present at birth | congenital
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| presence of extra chromosome within a cell | trisomy
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| an example of trisomy is having | 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 | monosomy
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| nondisjunction can lead to the chromosomal abnormalities of | trisomy & translocations
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| individuals with Turner's syndrome have chromosomes of the configuration | 45, X
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| Triple X syndrome can be associated with | decreased mental capacity
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| Fragile X syndrome is a major cause of | mental deficiency
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| x-linked autosomal diseases can become symptomatic in | males
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| trisomy of 12 autosomes will not be compatible with | full-term pregnancy
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| depending on genetic makeup, an embryo will be more or less susceptible to malformation from | environmental factors
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| culture of amnionic cells is important in order to | determine karyotype
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| chorionic villus sampling provides the same information as | amniocentesis
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| transfer of piece of one chromosome to a nonhomologous chromosome | translocation
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| congenital syndrome usually caused by absence of one X chromosome in the female | Turner syndrome
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| congenital syndrome caused by extra X chromosome in male | Klinefelter syndrome
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| Klinefelter syndrome is characterizes by | testicular atrophy, sterility, feminine body configuration, & subnormal intelligence
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| congenital syndrome caused by extra chromosome 21 | Down syndrome
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| change in structure of gene, which may alter its functions | gene mutation
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| abnormal hemoglobin that crystallizes under reduced oxygen tension | sickle hemoglobin
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| congenital malformation; absence of brain, cranial vault, & scalp as result of defective closure of neural tube | anencephaly
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| incomplete closure of vertebral arches over spinal cord | spina bifida
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| protrusion of meninges & neural tissue through spina bifida defect | cystic spina bifida
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| protein produced by fetal liver early in gestation | alpha fetoprotein
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| alpha fetoprotein is also sometimes produced by | tumor cells
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| alpha fetoprotein level is elevated in amniotic fluid when | fetus has neural tube defect
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| one X chromosome is inactivated | Lyon Hypothesis
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| in males one copy of most genes is on X chromosome, & inheritance of these genes is called | X-linked
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| man will transmit one copy of each X-linked gene | to his daughters and none to his sons
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| a woman will transmit one copy of each X-linked gene | to each daughter or son
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| environmental factors can affect | expression of some genes
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| examples environmental factors that can influence a child's development include: | nutritional patterns and health care
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| result from abnormalities of individual genes on the chromosomes | genetically determined diseases
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| some abnormalities of individual genes on the chromosomes, arise spontaneously, while others may be caused by | environmental teratogens
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| any agent or factor that induces or increases the incidence of abnormal prenatal development | 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 | mutation
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| caused by abnormalities in an individual’s genome | genetic or hereditary disorders or diseases
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| any abnormality present at birth | congenital disease or malformation
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| chromosomal abnormalities, abnormalities of individual genes, intrauterine injury, or environmental factors | factors in congenital malformations
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| 2-3% of all newborn infants have | congenital defects
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| additional 2-3% of developmental defects are demonstrated | later as infants grow older
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| 25% to 50% spontaneously aborted embryos, fetuses, and stillborn infants have | major congenital malformations
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| failure of homologous chromosomes in germ cells to separate in first or second meiotic division | nondisjunction
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| nondisjunction may involve either sex chromosomes or | autosomes
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| nondisjunction causes abnormalities in distribution of chromosomes between | germ cells
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| in nondisjunction, one of two germ cells has an extra chromosome while the other | lacks a chromosome
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| chromosome breaks during meiosis and broken piece is lost | deletion
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| variations in normal number of sex chromosomes are often associated with some reduction of | intelligence
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| directs masculine sexual differentiation, associated with male body configuration regardless of number of X chromosomes present | Y chromosome
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| no significant effect as it mainly carries genes concerned with male sexual differentiation | extra Y chromosome
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| body configuration is female | absent Y chromosome
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| has little effect (one X chromosome is inactivated) | extra X chromosome
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| has adverse effects on male development | extra X chromosome in males
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| extra X chromosome | Triple X Syndrome
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| extra Y chromosome | XYY Syndrome
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| most common chromosome abnormalities, in the female | Turner Syndrome & Triple X Syndrome
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| most common chromosome abnormalities, in the male | Klinefelter’s Syndrome & XYY Syndrome
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| Fragile X Syndrome causes | x-linked mental deficiency
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| not related to either excess/deficiency of sex chromosomes & associated with a characteristic abnormality of X chromosome | Fragile X Syndrome
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| as a major cause of mental deficiency Fragile X Syndrome is second to | Down syndrome
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| results in the loss of several genes that development is generally not possible and the embryo is aborted | absence of an autosome
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| may be compatible with development but usually results in multiple severe congenital abnormalities | deletion of a small part of an autosome
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| most common chromosomal abnormality, an autosomal trisomy | Down syndrome
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| Down syndrome is an autosomal trisomy of | small chromosome 21
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| in Down syndrome extra chromosome 21 acquired as part of the | translocation chromosome
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| most common chromosomal abnormality: 1:600 births/manifestations: mental deficiency, cardiac malformation, major defects in other organ systems | nondisjunction occurring in zygote
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| Cleft lip and palate; abnormal development of skull, brain, and eyes; congenital heart defect; polydactyly is caused by | trisomy of chromosome 13
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| associated with multiple severe congenital abnormalities | trisomy of chromosome 18
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| are usually fatal in the neonatal period or in early infancy | both 13 and 18 trisomies
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| leads to formation of gametes with an extra or missing chromosome. | nondisjunction in meiosis
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| occurs in small number of persons with Down syndrome | translocation Down syndrome
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| in translocation Down syndrome ___ fused with chromosome 14 or another chromosome | chromosome 21
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| in translocation Down syndrome total number of chromosomes not increased but genetic material is equivalent to | 47 chromosomes
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| translocation Down syndrome translocation occurred accidentally during gametogenesis when | both parents have normal chromosome cells
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| parent is capable of transmitting abnormal chromosome to his or her children resulting in translocation Down syndrome | 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 | female carrier
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| most hereditary diseases are transmitted | on autosomes
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| few hereditary diseases are carried on | sex chromosomes
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| autosomal dominant inheritance, autosomal recessive inheritance, codominant inheritance, X-linked inheritance are all possible for transmission of | genetically determined diseases
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| 3rd–8th week after conception: embryo is most vulnerable to ___ ___ as organ systems are still forming | maternal infections
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| combined effect of multiple genes interacting with environmental agents | multifactorial inheritance
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| test to determine biochemical abnormalities in fetal cells i.e.: chromosomal abnormalities, biochemical abnormalities, analysis of DNA | examination of fetal cells
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| tested because products secreted into fluid by fetus that may indicate fetal abnormality | 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 | ultrasound examination
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| examples of major structural abnormalities of nervous system | anencephaly &; spina bifida
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| determination of biochemical abnormalities by analysis of DNA of fetal cells | fetal DNA analysis
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| tests used to determine fetal DNA analysis | amniocentesis & chorionic villus sampling
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| amniotic fluid for study, usually performed between the 14th and 18th week of pregnancy | transabdominal amniocentesis
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| prenatal detection of chromosomal abnormality in women over age 35 due to higher incidence of Down syndrome in infants born to older women | primary use of transabdominal amniocentesis
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| frond-like structures that form part of placenta and attach to lining of uterus | Chorionic villi
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| can be performed earlier than amniocentesis & carries less risk from abortion if parent decides to terminate pregnancy in case of congenital abnormality | advantages of chorionic villus sampling
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| more difficult technically than amniocentesis & complications include spontaneous abortion, limb deformities in fetus | disadvantages of chorionic villus sampling
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