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Pathophys U2 ch 7
Pathophysiology Unit 2, Ch. 7
| Question | Answer |
|---|---|
| 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 |
| Polygenic | |
| 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
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