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Norn human cell is _ _ chromosomes 46
46 chromosomes arranged as _ _ pairs 23
22 pairs that control most traits in the body autosomes’
1 pair of sex chromosome, Y determines male
1 pair of sex chromosome X determines female
Physical features (hair, eye color) phenotype
Genetic makeup genotype
Linked recessive disorder more common in males hemophelia
Cell divides into 2 identical cells mitosis
Division of a sex cell into 2 or 4 haploid cells (egg & sperm) meiosis
Genetic map check for abnormalities (ex:sickle cell anemia), it’s an analysis of the #,form, and size of one’s chromosome karyotype
Most commonly used cell in karyotyping wbc or amniotic fluid
Results from unequal distribution of genetic material during gamete (egg & sperm) formation autosomal abnormalities
May be a diff in number of structure of chromosomes autosomal abnormalities
Entire single chromosome is missing numerical autosomal abnormality
Extra chromosome (ex down syndrome) trisomy autosomal abnormality
3 copies of chromosome 21, characteristics->simian crease (deep crease across the palm) down syndrome
Hyperflexability, wide set eyes, open mouth w/protruding tongue, simian crease Down syndrome
Part of a chromosome is missing structural abnormalities
Turner Syndorme and Klinefelter Syndrome are sex chromosome abnormalities
Monosomy, X45 Turner Syndrome
Trisomy XXY Klinefelter Syndrome
Sex chromosome abnormality that only affects girls Turner Syndrome
the female patient has only one X chromosome Turner Syndrome
Juvenile genitalia, underdeveloped ovaries, short low hair line in the back, neck webbing, low set ears, no toe nails, lymph edema of hands and feet Turner Syndrome
Poorly developed sexual characteristics, small testes, usually infertile, mildly retarded, tall Klinefelter Syndrome
Combo of genetic and environmental factors multifactorial inheritance
Cleft lip, cleft palate multicactorial inheritance
Congenital heart diasease, neural tube defects, and pyloric stenosis multifactorial inheritance
Spinal bifida multifactorial inheritance (neural tube defects)
A chondroplasia (dwarfism) autosomal dominant d/o
autosomal recessive inheritance Person would be a carrier (ex: sickle cell anemia or tay sachs)
Deficiency in the liver enzyme phenylalanine hydroxylase ->failure to met amino acid phenylalanine which then accumulates in blood & are harmful to the central nervous system and cause brain damage. phenylketonuria
Autosomal recessive d/o that effects the liver in which the state mandated screenings are to be done on newbornin the US phenylketonuria
Lipid storage disease common in jewish and french tay sachs
Deadly disease of the nervous system passed down through families. Symptoms: Deafness Decreased eye contact, blindness
This autosomal recessive inherited d/o baby seems normal at 4 to 6 months, then they regress and usually die at 3 or 4 years tay sachs (neuro prob)
Most common inherited form of cognitive impairment in both girls and boys,protein loss caused by a change in a gene, leads to large ears,long face,prominent forehead,protruding ears, and hypermobile joints fragile X syndrome (baby new year)
Created by: troop27



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