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57 Cards in this Set

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how many chromosomes and autosomes does each cell have?

what is the genetic term?
46 chromosomes
22 pairs of autosomes
1 pair of sex chromosomes

"Diploid"
Definition:

a chromosome number that is not a multiple of 23 (the normal haploid number)
Aneuploidy
(2) ways that a haploid can become aneuploidy
Nondisjunction
(ex - Down's)

Anaphase Lag
(monosomy)
what most commonly occurs w/ a polyploidy fetus?

give an example of what polyploidy means
spontaneous abortion

Polyploidy = multiples of 23 chromosomes;
ex) 69 chromosomes in patient
Definition:

two acrocentric chromosome are joined by common centromere causing the joining of the long arms (and possible loss of the short arms)
Robersonian Translocation
Definition:

the normal inactivation of one X chromosome
Lyonization

(creation of Barr Body)
How many Barr Bodies:

1. XX

2. XY

3. XXXY
XX = 1 barr body

XY = NO barr bodies

XXXY = 2 barr bodies
Definition:

when the cells in the body have a different genetic make-up (such as random X inactivation in females)
Mosaicism
Dx:

large forehead, broad nasal bridge, epicanthal folds, Brushfield spots, simian crease

genetic problem?
Down's syndrome


(Trisomy 21)
MCC of Down's syndrome

what is the other cause?

what is the "Familial form"?
Nondisjunction


(Robertsonian) Translocation
(familial form)
MC heart defect w/ Down's syndrome

what is it due to?
Septum primum-type ASD

due to: Endocardial Cushion defect
(3) MC complications of Down's syndrome
AAA:

ASD

ALL

Alzheimers
what is the maternal screening for Down's:
1. Alpha-fetoprotein
2. hCG
3. Unconjugated estriol
AFP = Low

hCG = High

E2 = Low
Dx:

severe mental retardation, microcephaly, wide-set eyes, low birth weight, round face, unusual cry

genetic problem?
Cri du chat

(deletion: 5p-)
Dx:

cardiac abnormalities, hypocalcemia, thymic aplasia, abnormal facies, cleft palate

genetic problem?
DiGeorge syndrome
(also called Velocardialfacial synd)

(22q11 microdeletion)

*signs = CATCH-22
Dx:

mental retardation, prominent occiput, Micrognathia, Rocker-bottom feet, index finger overlaps 3rd and 4th fingers, Congenital heart dz

genetic problem?
Edwards syndrome

(Trisomy 18 - nondisjunction)

*18 = Election = Edwards
Dx:

mental retardation, microcephaly, Microphthalmia, cleft lip and palate, Polydactyly, rocker-bottom feet

genetic problem?
Patau syndrome

(Trisomy 13 - nondisjunction)

13 = Puberty = Patau (= 13 fingers)
Definition:

disorder when there are at least two X-chromosomes and one or more Y-chromosomes
Klinefelter syndrome
Dx:

male w/ Atrophic testes, Tall stature, Gynecomastia, decreased testosterone, increased pituitary gonadotropins, male infertility

genetic problem?
Klinefelter syndrome

(maternal meiotic nondisjunction)

[Kline felt her TAG him]
Dx:

Violent behavior, tall, severe Acne
XYY syndrome
MCC of Primary Amenorrhea
Turner's syndrome
Dx:

Short stature, shield-like chest, Amenorrhea, Webbed neck, Ovary replaced by Fibrous Streaks

genetic problem?
Turner's syndrome

(XO w/o Barr bodies)

[Turner WAS not feminine]
MC cardiac problem w/ Turner's syndrome
Coarctation of the aorta
(2) common cardiac defects w/ 22q11 syndromes (DiGeorge)
Truncus Arteriosus

Tetralogy of Fallot

[where all the T's went to...]
Dx:

mental retardation, long face w/ large jaw, large everted ears, Autism, Macro-orchidism

genetic problem?
Fragile X syndrome

(X-lined defect w/ CGG repeats)

[big testicles = X-rated]
what is the underlying (biochemical) cause of Fragile X syndrome?

what is unusual about this syndrome?
defect in Methylation of FMR1 gene

X-linked problem that may show signs of retardation in male and female offspring
Definition:

severity of Dz worsens or age of onset of dz is earlier in succeeding generations

(example)
Anticipation

(Huntingtons)
Definition:

hereditary disorders in which differing phenotypes occur depending on whether an abnormal gene is of maternal or paternal origin

(examples)
Genomic Imprinting

(Prader-Willi or Angelman)
Dx:

mental retardation, hypogonadism, hypotonia, behavior problems, uncontrolled appetitie leading to obesity and DM

genetic problem?
Prader-Willi syndrome

(5q11-13 deletion on father's chromosome)
Dx:

mental retardation, ataxia, seizures, inappropriate laughter

genetic problem?
Angelman syndrome

(5q11-13 deletion on mother's chromosome)
Definition:

Not all individuals w/ mutant genotype show mutant phenotype
Incomplete penetrance
Definition:

one gene has greater then one effect on the individual's phenotype
Pleiotropy
Definition:

a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
Dominant Negative mutation

(exerts a Dominant effect)
Definition:

mutations at different loci can produce the same phenotype

(example)
Locus Heterogenicity

(Albinism)
Equation for Hardy-Weinberg population genetics:

Disease Prevalence
p^2 + 2pq + q^2 = 1
Equation for Hardy-Weinberg population genetics:

Allele Prevalence
p + q = 1
Equation for Hardy-Weinberg population genetics:

Heterozygote Prevalence
(p and q on separate alleles)
HP = 2pq
type of inheritance:

often due to Structural defects
Autosomal Dominant
type of inheritance:

often due to Enzyme deficiencies
Autosomal Recessive
Main sign of:

X-linked Recessive
no male-to-male transmission
Main sign of:

X-linked Dominant
All females are affected by father
Lysosomal storage Dz:

peripheral neuropathy of hands and feet, angiokeratomas, CV and renal Dz

Enzyme?

inheritance?
Fabry's Dz

(alpha-Galactosidase A)

X-recessive
Lysosomal storage Dz:

hepatosplenomegaly, aseptic necrosis of femur, bone pain, unique macros

Enzyme?
Gaucher's Dz

(Glucocerebrosidase)
Lysosomal storage Dz:

progressive neurodegeneration, hepatosplenomegaly, cherry-spot on macula

Enzyme?
Niemann-Pick

(Sphingomyelinase)
Lysosomal storage Dz:

progressive neurodegeneration, developmental delay, cherry-spot macula, lysozymes w/ onion skin

Enzyme?
Tay-Sachs Dz

(Hexosaminidase A)
Lysosomal storage Dz:

peripheral neuropathy, developmental delay, optic atrophy

Enzyme?
Krabbe's Dz

(beta-Galactosidase)

[Krabs have small eyes]
Lysosomal storage Dz:

developmental delay, gargoylism, airway obstruction, corneal clouding

Enzyme?
Hurler's syndrome

(Alpha-L-IDuronidase)

[A Lit-ID in Quasimoto caused him to HURL the GARGOYLE]
Lysosomal storage Dz:

mild developmental delay, mild gargoylism, airway obstruction, aggressive behavior

Enzyme?

inheritance?
Hunter's syndrome

(Iduronate Sulfatase)

[Hunter's Aggressive ID Shot the X]

X-recessive
Familial Dyslipidemia type:

Inc Chylomicrons only

pathology?
Type I

(hyperchylomiconemia)

Lipoprotein Lipase deficiency
Familial Dyslipidemia type:

Increased LDL only
(high blood cholesterol)

pathology?
Type IIa

(hypercholesterolemia)

Low LDL receptors
Familial Dyslipidemia type:

Increased LDL and VLDL

pathology?
Type IIb

(combined hyperlipidemia)

Hepatic overproduction of LDL
Familial Dyslipidemia type:

Increased IDL, VLDL

pathology?
Type III

(dysbetalipoproteinemia)

Altered Apo-E
Familial Dyslipidemia type:

Increased VLDL only
(high blood TG)

pathology?
Type IV

(hypertriglyceridemia)

Hepatic overproduction of VLDL
Familial Dyslipidemia type:

Increased VLDL, chylomicrons

pathology?
Type V

(mixed hypertriglyceridemia)

Inc production or Dec clearance of VLDL and chylomicrons
Autosomal Dominant Dz:

cafe-au-lait spots, neural tumors, pigmented iris hamartomas, scoliosis
Neurofibromatosis Type 1

(Von Recklinghausen Dz)

(chrom 17)
Autosomal Dominant Dz:

bilateral acoustic neuromas, optic pathway gliomas, juvenile cataracts
Neurofibromatosis Type 2

(chrom 22)
Autosomal Dominant Dz:

facial lesions, hypopigmented "ash leaf spot" on skin, cortical and retinal hamartomas, seizures, mental retardation
Tuberosus Sclerosis