Nondisjunction disorders. Nondisjunction Nondisjunction—When chromosomes fail to separate during...
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Transcript of Nondisjunction disorders. Nondisjunction Nondisjunction—When chromosomes fail to separate during...
![Page 1: Nondisjunction disorders. Nondisjunction Nondisjunction—When chromosomes fail to separate during meiosis. This can happen at anaphase I or II.](https://reader037.fdocuments.in/reader037/viewer/2022103006/56649ed15503460f94be07ac/html5/thumbnails/1.jpg)
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NondisjunctionNondisjunction
Nondisjunction—When chromosomes fail to separate during meiosis.
This can happen at anaphase I or II.
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Human Human male male karyotypkaryotype, e, written written
as as 46 46 XYXY
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Human Human female female karyotypkaryotype, e, written written
as as 46 46 XXXX
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Down SyndromeDown Syndrome47, XX or XY, +21
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1 in 700 births
47 chromosomesXY or XX
#21 Trisomy Nondisjunction
Down Syndrome
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Down SyndromeDown Syndrome
Short, broad hands Stubby fingersMentally retardedSmall round faceProtruding tongueShorter lifespanSlanted eyes
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Patau Patau syndromesyndrome
47, XX or XY,Trisomy 13
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Patau’s Trisomy Patau’s Trisomy SyndromeSyndrome
1 in 10,000 births
47 chromosomesXY or XX
47, +13
#13 Trisomy Nondisjunction
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Small headSmall or missing eyesHeart defectsExtra fingersAbnormal genitaliaMentally retardedCleft palateMost die before birth; some survive a few weeks after birth
Patau’s Trisomy Patau’s Trisomy SyndromeSyndrome
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Edwards SyndromeEdwards Syndrome
47, XY, +18
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Edward’s Trisomy Edward’s Trisomy SyndromeSyndrome
1 in 2500 pregnancies, 1 in 6000 births
47 chromosomesXX=80%
XY=20%
#18 Trisomy Nondisjunction
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Edward’s Trisomy SyndromeEdward’s Trisomy Syndrome
Small headMentally retardedInternal organ abnormalities90% die before 5 months of age
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JacobJacob’’s syndromes syndrome
XYYNo abnormal
appearance/behaviorfertile
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Jacob’s SyndromeJacob’s Syndrome
1 in 1,000 boys
47 chromosomesXYY only
#23 Trisomy Nondisjunction
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Jacob’s SyndromeJacob’s Syndrome
Normal physicallyNormal mentallyAssociated with risk of learning disabilities.Once thought to be more aggressiveNormal lifespan
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KlinefelterKlinefelter’’s Syndromes Syndrome
XXY, male
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Klinefelter’s SyndromeKlinefelter’s Syndrome
1 in 500-1000 births
47 chromosomesXXY only
#23 Trisomy Nondisjunction
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Klinefelter’s Klinefelter’s SyndromeSyndromeScarce beardLonger fingers and armsSterileLow testosteroneDelicate skinPossible learning disabilitiesNormal lifespanMore X chromosomes could cause worse symptoms (XXXY)
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Turner SyndromeTurner Syndrome
45, X
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Turner SyndromeTurner Syndrome
Occurs in about 1 in 2,500 birthsMany do not survive to birthNo menstruationNo breast developmentNo hipsBroad shoulders and neck
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Trisomy XTrisomy X47 XXX symptoms
healthy and fertile - cannot be distinguished from normal female except by karyotype
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Triple X SyndromeTriple X Syndrome
1 in 1,000 births
47 chromosomesXXX only
#23 TrisomyNondisjunction