pedigree and karyotyping

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Pedigree and Karyotyping:

Pedigree and Karyotyping Dr. Anita Lamichhane Dept. of pediatrics Shaikh Zayed Hospital, Lahore

Basic Symbols:

Basic Symbols

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= Subject without offspring = abortion or still birch ------------ = offspring illegimate

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Dizygous twins Monozygous twins (Identical twins )

Example 1:

Example 1

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Autosomal dominant

Example 2:

Example 2

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Autosomal Recessive

Example 3:

Example 3

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X-linked recessive

Example 4 H/o muscle weakness, hearing loss, heart block:

Example 4 H/o muscle weakness, hearing loss, heart block

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Mitochondrial inheritance Transmitted exclusively via the maternal line If a female has a mitochondrial trait, all of her offspring inherit it. If a male has a mitochondrial trait, none of his offspring inherit it Males & females are equally affected

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Features which suggest possible Mt DNA etiology: Myopathy Encephalopathy Deafness Heart block Diabetes mellitus Renal failure Lactic acidosis stroke

Example 5:

Example 5

X-linked recessive:

X-linked recessive

Example 6:

Example 6

Autosomal dominant:

Autosomal dominant

Example 7 2 unrelated families have had the same spontaneous mutation:

Example 7 2 unrelated families have had the same spontaneous mutation Family 1 family 2

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X- linked dominant

Example 8 Parents have same condition.:

Example 8 Parents have same condition. Died at 6 months of age

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Achondroplasia

Example 9 What is the pattern of inheritance??:

Example 9 What is the pattern of inheritance??

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X-linked dominant

Example 10:

Example 10

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Mitochondrial inheritance

Example 11:

Example 11

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X-linked recessive

Karyotyping:

Karyotyping Karyotype :Number & appearance of chromosomes in the nucleus of a eukaryotic cell Karyotyping :Describes the number of chromosomes, and what they look like under a light microscope The study of Karyotype is made possible by staining.

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a suitable dye, such as Giemsa is applied after cells have been arrested during cell division by a solution of colchicine. For humans, white blood cells are used most frequently (as they are easily induced to divide and grow in tissue culture)

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p q 11.3 11.2 11.1 11.2 12 21 22 23 11.32 11.31 11.22 11.21 11.1 11.23 11.2 12.1 12.3 12.2 21.1 21.2 21.31 21.32 21.33 22.1 22.2 22.3 23 Chromosome Nomenclature

Normal human Karyotype:

Normal human Karyotype

Normal male karyotype:

Normal male karyotype

Normal female karyotype:

Normal female karyotype

Example 1:

Example 1

Trisomy 21(47,XY,+21) :

Trisomy 21(47,XY,+21)

Example 2:

Example 2

Klinefelter’s syndrome (47,XXY) :

Klinefelter’s syndrome (47,XXY)

Example 3:

Example 3

Trisomy 16(47,XY,+16) :

Trisomy 16(47,XY,+16)

Example 4:

Example 4

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47, XY, +18 karyotype ; trisomy 18 (Edward's syndrome).

Example 5:

Example 5

Turner syndrome(45,XO) :

Turner syndrome(45,XO)

Example 6:

Example 6

Cri du chat syndrome( missing or deletion of p arm on 5th chromosome):

Cri du chat syndrome( missing or deletion of p arm on 5 th chromosome)

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Paternal DNA Maternal DNA D e l e t e d ?????? D e l e t e d ??????? Gene imprinted (turned off) Example 7 Gene not imprinted (turned on)

Example 8:

Example 8

Trisomy 13 (47, XX, +13):

Trisomy 13 (47, XX, +13)

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