Pathology and Pathophysiology Correlations exam questions and answers fully solved,

Pathology and Pathophysiology Correlations exam questions and answers fully solved congenital - Answerspresent at birth malformation - Answersintrinsic defect in development syndrome - Answersdefect characterized by a common set of abnormalities related to a single cause fetal deformation - Answersmisshapen fetus caused by compression or dispositioning during fetal development fetal disruptions - Answerscongenital abnormality caused by physical disruption of the fetus phocomelia - Answersreduction of bones of the extremities sudden infant death syndrome (SIDS) - Answersunexplained death of child under the age of one year fetal alcohol syndrome - Answersdevelopmental abnormalities related to heavy alcohol consumption during pregnancy TORCH complex - Answersmnemonic for organisms causing maternal infections injurious to the developing fetus microcephaly - Answersfailure of the brain to develop normally Hereditary or genetic disease - Answerscondition resulting from a chromosome abnormality or defective expression of a gene nondisjunction - Answerscondition resulting from failure of homologous chromosomes to separate during meitosis aneuploidy - Answerscondition denoting abnormal number of chromosomes trisomy - Answersthe presence of an extra chromosome within a cell; having three of a given chromosome instead of the usual pair monosomy - Answersa condition of a cell in which one chromosome of a homologous pair is missing Turner syndrome - Answersa congenital syndrome usually caused by absence of one X chromosome in the female chromosome deletion - Answersloss of part of a chromosome during meiosis translocation - Answersa transfer of a piece of one chromosome to a nonhomologous chromosome down syndrome - Answerscondition resulting from trisomy for chromosome 21 chromosomal mosaics - Answersindividual with both normal cells and cells having a chromosomal abnormality phenotype - Answersappearance of individual as opposed to genes present pseudo autosomal genes - Answersgenes carried on the X chromosome not subject to random X inactivation Triple X syndrome - Answerspresence of one or more extra X chromosomes Klinefelter syndrome - Answersa congenital syndrome caused by an extra X chromosome in the male Double Y syndrome - Answersthe presence of an extra Y chromosome in the male Fragile X syndrome - Answerscondition resulting from defects in a gene on the X chromosome associated with mental retardation CGG repeats - Answersexpansion of cytosine-guanine-guanine repeating sequences; defect responsible for fragile X syndrome full mutation - Answerslarge number of CGG repeats resulting in detectable disease premutation - Answerscondition in carriers of fragile x; relatively few repeats genetic anticipation - Answerstendency for a mutation to become worse with each generation macro-orchidism - Answerslarge testicles gene mutation - Answerschange in gene structure sickle hemoglobin - Answersan abnormal hemoglobin that crystallizes under reduced oxygen tension linkage - Answersgenes inherited together. Linked genes segregate together during meitosis achondroplasia - Answersa type of dwarfism adult polycystic kidney disease - Answersautosomal dominant disease characterized by the formation of multiple cysts throughout both kidneys multiple neurofibromatosis - Answersautosomal dominant disease characterized by formation of multiple tumors of nerve tissue inbreeding - Answersmating between closely related individuals inborn errors of metabolism - Answersgenetically determined enzyme defects phenylketonuria - Answersautosomal recessive disease caused by the inability Tay-Sachs disease - AnswersAutosomal recessive disease caused by the absence of lysosomal enzyme hexosaminidase A Cystic fibrosis - AnswersAutosomal recessive disease caused by a defected sodium ion transporter gene hemochromatosis - Answersan autosomal recessive genetic disease characterized by excessive iron absorption, leading to accumulation of excessive amounts of iron in the body, causing organ damage. sickle cell trait - Answerscondition in individuals heterozygous for the sickle hemoglobin gene Sickle cell anemia - Answerscondition in individuals homozygous for the sickle hemoglobin gene Multifactorial inheritance - Answersinheritance of a trait or condition related to the combined effect of multiple genes rather than a single gene, as in Medelian inheritance Anencephaly - Answersa congenital malformation: absence of brain, cranial vault, and scalp as a result of defective closure of the neural tube. Spina bifida - Answersincomplete closure of vertebral arches over the spinal cord, sometimes associated with protrusion of meninges and neural tissue through the defect (cystic spina bifida) Chorionic villi examination - Answerssampling of fetal derived placental cells Alpha fetoprotein (AFP) - Answersprotein produced by fetal liver early in gestation. Level is elevate when fetus has a neural tube defect Amniocentesis - AnswersDirect sampling of amniotic fluid Petechiae - Answerssmall hemorrhages Seropositive - Answersha