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Birth Defects
N/A
40
Anatomy
Graduate
01/18/2012

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Cards

Term
What defines the "environment" for a developing embryo/fetus?
Definition
Everything outside his/her own skin including the mother's body
Term
What is the definition of teratology?
Definition
The study of the auses, mechanisms, and manifestations of developmental defects of a structural and/or functional nature
Term
What is the primary etiology behind the development of birth defects?
Definition
50-60% unknown, 20-25% multifactorial in nature
Term
An abnormal number of chromosomes other than an exact multiple of the haploid number is known as what?
Definition
Aneuploidy
Term
An abnormal number of chromosomes that is an exact multiple of the haploid number is known as what?
Definition
Polyploidy
Term
What is the most common trisomies of autosomes?
Definition
Trisomy 21 (Down syndrome), Trisomy 18, Trisomy 13
Term
Turner syndrome (45,X) is an example of what type of numerical chromosomal abnormality?
Definition
Monosomy of sex chromosomes
Term
What are the symptoms of Down Syndrome?
Definition
Growth retardation, varying mental retardation, upward slanting eyes with epicanthal folds, single palmar crease (simian crease) cardiac defects, hypotonia, altantoaxial instability (15%)
Term
Why does the incidence of down syndrome increase dramatically with maternal age?
Definition
Increased incidence of meiotic nondisjunction
Term
What is the karotype of Klinefelter syndrome?
Definition
47, XXY
Term
What are the symptoms of Klinefelter syndrome?
Definition
Tall stature, broad hips, testicular atrophy with hyalinized seminiferous tubules, gynecomastia, possible mental retardation
Term
40% of Klinefelter syndrome patients have gynecomastia, giving them an increased chance at developing what?
Definition
Breast cancer
Term
What is the most common type of polyploidy?
Definition
Triploidy (fatal)
Term
Deletion means what?
Definition
Loss of part of a chromosome
Term
What is the definition of translocation
Definition
Transfer of a piece of one chromosome to an nonhomologous chromosome
Term
Duplication means what?
Definition
Incorporation into a chromosome of a duplicated segment
Term
What defines inversion?
Definition
The reversal of a segment of chromosome, usually following a double break
Term
What is the definition of isochrosomes?
Definition
The transverse trather than longitudinal division of the centromere joining two chromatids
Term
What causes cri du chat syndrome?
Definition
Partial deletion from chromosome 5
Term
What are the symptoms of cru du chat syndrome?
Definition
Catlike cry, microcephaly, mental retardation, congenital heart disease
Term
When is it possible for translocation to not be detrimental to development?
Definition
If exchange is reciprocal and breaks do not occur
Term
What is the most common cause of duplications?
Definition
Unequal cross over
Term
Which structural chromosomal defect usually does not result in an abnormal phenotype?
Definition
Inversion
Term
15-20% of women with what disease carry isochromosomes?
Definition
15-20%
Term
What causes mosaicism?
Definition
Mitotic nondisjunction of chromosomes
Term
What are some environmental agents that cause developmental anomalies?
Definition
Drugs, environmental chemicals, ionizing radiation, mechanical forces, infectious agents
Term
What are some drugs that cause developmental defects?
Definition
Thalidomide (sleeping pill), alcohol, aminopterin, retinoic acid (vit A), phenytoin
Term
What traits are symptomatic of fetal alcohol syndrome?
Definition
Microcephaly, maxillary hypoplasia, short palpebral fissures, joint abnormalities, cardiovascular defects
Term
What kind of defects are caused by aminopterin?
Definition
Skeletal and CNS defects
Term
What causes fetal hydantoin syndrome?
Definition
The anticonvulsant, phenytoin
Term
What causes fetal Minamata disease?
Definition
The environmental chemical methylmercury
Term
What kind of mechanical factors can induce developmental defects?
Definition
Oligohydramnios (too little amniotic fluid), uterine malformations, fetal growth restraint (multiple fetuses or uterine tumors), amniotic bands
Term
What kinds of infectious agents can cause developmental anomalies?
Definition
Toxoplasma gondii (intracellular parasite), Rubella virus (German measles, cytomegalovirus
Term
What is the most common viral infection of the human fetus?
Definition
Cytomegalovirus
Term
What can cause a Toxoplasma gondii infection?
Definition
Eating raw or poorly cooked pork or lamb, close contact with infected cats, may result in hydrocephalus
Term
What kind of infection can cause cataracts and possibly glaucoma?
Definition
Rubella virus
Term
Cytomegalovirus may cause what kind of defect of infection is later in gestation?
Definition
Microphthalmia (eye that is toos mall)
Term
The susceptibility of developing organisms to adverse environmental influences depends on what?
Definition
The genotype of the conceptus and how it interacts with the environment (eg. thalidomide was tested for safety in rodents, but they are resistant to its teratogenic effects)
Term
Vulnerability to teratogenesis depends on what?
Definition
Developmental stage at the time of exposure
Term
The results of abnormal development are what?
Definition
Death, malformation, growth retardation, functional deficit, and transplacental carcinogenesis
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