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105 Cards in this Set

  • Front
  • Back
The inactivation of the X chromosome is called a?
Barr body
Barr bodies result in cells that have either and active or inactive x chromosome. This is called a ____ of expressivity.
Examples for mosaicism in females from class are?
sweat spots
R/G color blindness
calico cats
T or F?
A women expresses both X when she is conceived?
T or F?
All daughter cells of the cell with the barr body will express different x chromosomes?
T or F?
Not all individuals need an X chromosome to survive?
How is sex-linked different than sex-influenced traits?
Sex-linked traits can only occur in that sex and occur on the sex chromosomes. Sex-influenced traits behave differently in males and females, and they occur on autosomal chromosomes.
An example of a sex-influenced trait from class is?
Male-pattern baldness
Dominant in males
Recessive in females
What is an inherited condition that is not traceable to the genome?
cytoplasmic inheritance
Why is mitochonrial DNA so much more likely to develop mutations?
Has no repair mechanisms
T or F?
All mtDNA comes from maternal cytoplasm?
What system is most affected by faulty cytoplasmic inheritances?
A pedigree showing the inheritance of cytoplasmic inheritance caused by mitochondrial mutations shows that who can only transmit mutations to offspring?
Characteristics of Leber Hereditary Optic Neuropathy.
degeneration of optic nerve
center field of vision goes 1st
20-30 year olds
mtDNA disorder
variable expressivity
X-linked condition
Long,large face
Protruding ears
Varying mental retardation
Fragile X
What is the penetrance of Fragile X in men and females?
80 percent in males
40 percent in females
Explain anticipation.
Condition that shows frequency and severity in subsequent generations.
More frequency=more severity
What does fMRP stand for and what is its function?
fragile x mental retardation protein
codes for TNR
What is the basis of the cause of Fragile x syndrome?
What are the amount of repeats that a NL, pre-mutated, and mutated individuals?
NL 5-50
Pre-mutated 50-200
Mutated 200-4000
What is the reason for the TNR stutter?
Composition of C-G complexes
What deals with the entire chromosome number?
What is characterized by the correct chromosome number?
What is characterized by an entire extra chromosome set?
What is characterized by having one extra or one missing chromosome?
What are two types of aneuploid?
What lab is usually run to diagnose any trisomies?
Lab 21,13,18
What is the most common reason for aneuploidy?
Non disjunction occurs during what phase?
Characteristics of Trisomy 21
mental retardation
upward slanting of upper and lower eyelids(palpebral fissure)
short neck
prone to GI obstruction
Increase risk of Leukemia
What is the occurance of Trisomy 21?
1/1000 live births
What are the 6 anticipatory guidances in children with Trisomy 21?
Heart defects by age 1
Strabismus by age 4
Hypothyroidism annually
Sensorineural and hearing loss by 6-8 mths
Instability of T1-2
Developmental interventions
What syndrome is the 2nd most common trisomy, characterized by a small face, mouth, misshapen ears, small for gestational age, clenched fists with overlapping fingers?
Trisomy 18- Edwards
What is the occurance of Trisomy 18?
Characteristics of Trisomy 13?
Cleft lip, septal defects, lethal in first year, mental impairment
What is the occurance of Trisomy 13?
Characterized by XXY, long limbs, gynecosmastia, abnormally small testes, learning deficiencies, and prone to breast cancer?
Klinefelter Syndrome
What is the occurance of Klinefelter syndrome?
X-O, short, webbing at neck, heart disease, no secondary sex characteristics
Turner's Syndrome
what is the occurance of Turner's syndrome?>
T or F?
Can Turner syndrome be treated with estrogen at a very young age?
In banding patterns of chromosomes, the "p" arm is___ and the "q" arm is?
p = short
q = long
What is the meaning of
Chromosome 8, long arm q, region 2, region 1 of region 2
What is the gene that determines the path of the embryo?
TDF, testes determining factor
What is the result of a hitch-hiking TDF?
XX males
What is the result of an absent TDF?
XY females
What is it called when some genes on chromosomes are not accessible?
What chromosome did we discuss in class that is involved in imprinting diseases?
What disorder results from the the deletion of the gene on the paternal chromsosome and is not replaced by a gene on the maternal chromsosome?
Prader-Willi syndrome
What disorder is characteristic of a deletion on the maternal chromosome with no replacement by the paternal chromosome?
What are the clinical features of prader-willi?
overweight, extreme hunger, complications with obesity, may frequently choke, mild-severe mental retardation
What are clinical features of Angelmans?
Ataxic gait, standing on one foot, odd posture, always smiling, mild-moderate mental retardation
What are disorders stemming from missing or malfunctioning enzymes involved with?
Metabolism disorders
T or F
Most metabolic disorders are found in the sex chromosomes?
False, most are autosomal
T or F?
Carriers of metabolic disorders are asymptomatic?
What disorder is characterized by not being able to convert phenyl-alanine, causing a build up?
May form severe types of mental retardation, all infants are tested at birth, affected individuals are on a restricted medical diet?
T or F?
A female with PKU doesnt have to go on a restricted medical diet while pregnant?
Describe Galactosemia?
Hepatic insufficiency
Failure to thrive
Developmental delay
Medical diet restriction of galactose
Describe MCAD deficiency?
Multiple organ failure
Cerebral edema
Liver/kidney damage
Vomit and lethargy after fasting
Add glucose to IV
Lead to death by 2
A carbohyrdate disorder
A fatty acid disorder
MCAD deficiency
A lysosomal storage disorder
Describe Hurler syndrome?
Multi-organ dysfunction
enlarge liver
bone disorders
Gargoyle appearance
degree of mental retardation
What is the fertilized egg called?
What is the division stage called?
Upon the first cleavage of the embryo what results?
2 celled embryo (day 2)
T or F?
The 2 cell embryo is totipotent?
What does totipotent mean?
Ability to develop into the entire embryo plus fetal contribution, utilization of entire genome
When does a cell lose its ability to be totipotent?
After compaction
At what stage does compaction take place?
Morula, 16 cell stage, at day 4-5
How many cells become entraped during compaction?
At day 6-7, a solid ball hollows out, and cells become limited or ______ .
What does the 2 entraped cells become?
From the 14 cells that surround the 2 cells, it becomes the___?
What are the two populations that the trophoblast becomes?
What is the role of the syncytium?
secretes enzymes to degrade endometrium
responsible for attachment and implantation
What is the role of the cytotrophoblast?
Remains after implantation as the trophoblast reminant and becomes fetal part of placenta
T or F?
While the trophoblast does it's job, the ICM flattens out?
What is the term given to the flattened ICM?
What are the three layers of the epiblast and what do they make up?
Ectoderm-CNS, skin, and hair
Endoderm-Gut, digestive tract
Mesoderm-muscles, cardio, vessels, bone, cartilage
What is the origin of the chorion?
What are the fingerlike projections from the chorion called?
chorionic villi
Fetal capillaries under the chorionic villi connect to the fetal capillaries in the mesoderm to form the_____?
umbilical cord
Extra cells from the blastocyst (2 cells engulfed previously) form a dome called the?
T or F?
The embyro eats the amnion?
False, the embryo backs into the amnion after the amnion forms from the blastocyst
As the embryo forms, a plate develops in the center. The mesoderm subset forms a rod of tissue called ____?
What is the function of the notochord?
Sends signals to layers and lays down rules for differentiation
If you remove this it will cause the stoppage of the growth of the limbs?
AER, apical epidermal ridge
This controls set up of polarity.
ZPA, zone of polarizing activity
What is a teratogen?
Birth defect causing agent
Ex: retinoic acid, disrupts cellular activity
What is a blastema?
A mass of stem cells that forms under a stump, de-differentiated cells that are capable of regrowing
What organism has been studied and compared to human development?
fruit fly, drosophilia
Bad signals cause mutations and can cause______?
SIM, segment identity mistakes
The gene is found in most organisms. Specifically found on a chromosome segment of drosophila; segments line up to mimic head and tail.
HOX genes
These control expression of genes responsible for making anatomical structures
Hox genes
T or F
Hox genes do not code for transcriptional factors
False, they do code for TFs
Transcription factors code for?
DNA binding proteins
What is secreted from cells to stimulate secreted ligands?
diffusible factors
This is a 2nd way of communication, signals AER, notochord, ZPA. Bind to receptors and stimulate cell to release own ligands.
Secreted ligands
T or F
Cells that secrete Hox genes will ship them out for other cells to use?
False, cells that secrete hox genes will use them locally
What is the basic fundamental signal that embryos use for correct development?
SHH, sonic hedge hog gene
What is a disorder caused by a SIM and is charactistic of a fused nose, and cyclops appearance?
What did cloning proove?
That differentiation was not permanent.
T or F?
Cloning involves the fustion of an enucleated oocyte and donar cell fibroblast?