and genetic disorders
DESCRIPTION
karyotypes. And Genetic Disorders. Karyotypes. an organized profile of a person’s homologous chromosomes (somatic cells only) Each pair is organized by size, banding patterns, and location of centromere. Centromere. Banding Pattern. “Bands” are large segments of DNA. - PowerPoint PPT PresentationTRANSCRIPT
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And Genetic Disorders
KARYOTYPES
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Karyotypesan organized profile of a person’s homologous
chromosomes (somatic cells only)
Each pair is organized by size, banding patterns, and location of centromere
Centromere
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Banding Pattern“Bands” are large segments of DNA
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Exception: Position 23
Chromosome Pair #23 determines sex
Only pair that might NOT match up…
vs.
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Female
23rd pair of chromosomes are homologous
Both chromosomes are “X” chromosomes
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Male23rd pair of chromosomes are
NOT homologous
One chromosome is “X” and the other is a “Y” chromosome
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Normal Karyotypes
Has 46 chromosomes for humansArranged in 23 pairs
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DisjunctionNormal separation of Chromosomes and Chromatids during Meiosis I and Meiosis II
(Anaphase I & II)
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NON-disjunctionNondisjunction during Meiosis I
Metaphase I
Anaphase I
Failure to separate homologous pairs
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NON-disjunctionNondisjunction during Meiosis II
Metaphase II
Anaphase II
Failure to separate Chromati
ds
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What does nondisjunction cause?Missing Chromosomes – Monomy
Embryo/Fetus will not surviveMeans 45 chromosomesException is this can occur on 23rd chromosome pair
Extra Chromosomes – TrisomyMeans 47 chromosomes– Down Syndrome (Trisomy 21)– Patau Syndrome (Trisomy 13)– Klinefelter’s Syndrome (XXY)– Turner’s Syndrome (X-)– XYY Syndrome– And many more………….
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Trisomy 21 – Down SyndromeExtra Chromosome 21
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Trisomy 13 – Patau SyndromeExtra Chromosome 13
Symptoms can include• Cleft lip or palate • Close-set eyes -- eyes
may actually fuse together into one
• Decreased muscle tone • Extra fingers or toes• Hernias• Hole, split, or cleft in the
iris• Low-set ears • Mental retardation• Scalp defects (absent
skin) • Seizures • Single palmar crease • Skeletal (limb)
abnormalities • Small eyes • Small head• Small lower jaw • Undescended testicle
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Klinefelter’s Syndrome (XXY)Extra Sex Chromosome “X”
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XYY Syndrome-Jacob’s Syndrome
XYY syndrome is characterized by an extra copy of the Y chromosome
males with this condition may be taller than average
This chromosomal change typically causes no unusual physical features
Most males with XYY syndrome have normal sexual development and are able to father children
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Turner’s Syndrome (X-)