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Pathophys U2 ch 7

Pathophysiology Unit 2, Ch. 7

Allele one of two forms of a gene at corresponding sites on a chromosome pair; the code for phenotype or characteristic manifested in an individual
Amniocentesis removal of a small amount of amniotic fluid from around the fetus for examination and diagnosis
Anomaly abnormal structure; often congenital
Autosomes any chromosome other than a sex chromosome
Expression process by which a gene’s coded information is converted into the structures operating a cell
Gene penetration frequency of expression of a gene among individuals carrying the gene
Genotype genetic makeup of a cell or individual
Heterozygous having two different alleles at corresponding points on a chromosome pair
Homozygous having two identical alleles at corresponding points on a chromosome pair
Incomplete dominant
Karyotype visual demonstration of the pairs of cell chromosomes arranged in order of size
Meiosis cell replication in humans, each sperm and ovum receive only 23 chromosomes (one chromosome from each pair)
Mitosis cell reproduction resulting in two daughter cells with the same DNA as the parent cell
Mutation change in the genetic makeup (DNA) of a cell, which will be inherited
Neonates newborn children
Organogenesis formation and differentiation of organs and systems during embryonic development
Phenotype characteristics manifested by a person depending on genetic and environmental factors
Teratogenic substance/condition that impairs normal development of the embryo or fetus in utero, causing a congenital abnormality
Trisomy contain an extra chromosome for a total of 47; named for the pair where the extra chromosome occurs; three chromosomes instead of two in the 21 position is trisomy 21
Inherited disorders are genetic in origin; dev disorders result of harmful influences during embryonic/fetal development difference b/t inherited disorder and developmental disorder
First two months are critical time for development when most organogenesis occurs; poor nutrition = insufficient nutrients (i.e. folic acid deficiency, anemia how does poor maternal nutrition cause developmental disorder?
Difficulties during/after birth may temporarily deprive the newborn of oxygen can cause brain damage how could labor and delivery of a child be responsible for a congenital disorder?
Inherited disorders result from abnormalities/damage to genetic makeup, chromosomal defects result from errors during meiosis what’s the difference b/t inherited disorder and chromosomal disorder?
Error in chromosomal duplication/reassembly during meiosis, resulting in abnormal chromosome plcmt (translocation), altered structure (deletion), or abnormal # chromosomes etiology of chromosomal disorders
Monosomy when one member of a chromosome pair is lost during meiosis
trisomy when there is extra duplication of one member of a chromosome pair, yielding three chromosomes instead of two
maternal age over 35 significant risk factor for chromosomal disorders
multifactorial disorders occur when a combo of factors is responsible for a congenital disorder; i.e. polygenic, caused by multiple genes/inherited tendency; ex. anencephaly, cleft lip/palate, clubfoot
autosomal recessive and sex-linked recessive disorders types of inherited disorders that have a carrier state
heterozygous, not usually symptomatic is the genotype of a carrier heterozygous or homozygous?
Chromosomal disorder what kind of disorder is down syndrome?
Amniocentesis and karyotyping how can down syndrome be diagnosed prenatally?
Trisomy 21 what is the karyotype of a person w/ down syndrome?
Defects in physical and mental dev; hypotonic muscles, loose joints, cervical instability, delayed dev states, cognitive impairment, delayed sexual development abnormalities/problems associated w/ down syndrome
Created by: michellerogers