Nondisjunction disorders And other abnormal chromosome events.
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Transcript of Nondisjunction disorders And other abnormal chromosome events.
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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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Jacob’s syndromeJacob’s syndrome
XYYNo abnormal
appearance/behaviorfertile
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Jacob’s SyndromeJacob’s Syndrome
1 in 1,800 births
47 chromosomesXYY only
47XYY
#23 Trisomy Nondisjunction
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Jacob’s SyndromeJacob’s Syndrome
Normal physicallyNormal mentallyIncrease in testosteronePerhaps more aggressiveNormal lifespan
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Klinefelter’s SyndromeKlinefelter’s Syndrome
XXY, male
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Klinefelter’s SyndromeKlinefelter’s Syndrome
1 in 1,100 births
47 chromosomesXXY only
47, XXY
#23 Trisomy Nondisjunction
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Klinefelter’s Klinefelter’s SyndromeSyndrome
Scarce beardLonger fingers and armsSterileDelicate skinLow mental abilityNormal lifespan
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Patau Patau syndromesyndrome
47, XX, +13
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Patau’s Trisomy Patau’s Trisomy SyndromeSyndrome
1 in 14,000 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 a few weeks after birth
Patau’s Trisomy Patau’s Trisomy SyndromeSyndrome
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Down SyndromeDown Syndrome47, XY, +21
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1 in 1,250 births
47 chromosomesXY or XX
#21 Trisomy Nondisjunction
Down Syndrome
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Down SyndromeDown Syndrome
Short, broad hands Stubby fingersRough skinImpotency in malesMentally retardedSmall round faceProtruding tongueShort lifespan
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Edward’s Trisomy Edward’s Trisomy SyndromeSyndrome
1 in 4,400 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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Turners SyndromeTurners Syndrome
45, X
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Turners SyndromeTurners Syndrome
96-98% do not survive to birthNo menstruationNo breast developmentNo hipsBroad shoulders and neck
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Trisomy 16, monosomy XTrisomy 16, monosomy X
46, X, +16Not viable beyond 1st
trimester
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Trisomy XTrisomy X47 XXX symptoms
1/1000healthy and fertile -
cannot be distinguished from normal female except by karyotype
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Robertsonian Translocation Robertsonian Translocation 13-1413-14
Several types, with varying results.
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Wolf Hirshhorn SyndromeWolf Hirshhorn Syndrome4p- Very rare. Affected children are small, with microcephaly
and abnormal facies. There are cardiac, renal, and genital abnormalities. Most are stillborn or die in infancy.
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Cri-du-chat SyndromeCri-du-chat Syndrome
5p- site
Moon-shaped faceHeart diseaseMentally retardedMalformed larynxNormal lifespan
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Aniridia-Wilms Tumor Aniridia-Wilms Tumor SyndromeSyndrome
1 in 50,000,000 births
46 chromosomesXY or XX
#11 Deletion of upper arm
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Aniridia-Wilms Tumor SyndromeAniridia-Wilms Tumor Syndrome
Mentally retardedGrowth retardedBlindnessTumors on kidneysShort lifespan
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Thirteen Q Deletion Thirteen Q Deletion SyndromeSyndrome
1 in 500,000 births
46 chromosomesXY or XX
#13 Deletion of lower arm
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Thirteen Q Deletion SyndromeThirteen Q Deletion Syndrome
Mentally retardedDeformed faceNo thumbsHeart diseaseShort lifespan
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Prader-Willi Prader-Willi SyndromeSyndrome
1 in 5,000,000 births
46 chromosomesXY=97% XX=3%
#15 Deletion of lower arm
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Prader-Willi SyndromePrader-Willi Syndrome
Small bird-like headMentally retardedRespiratory problemsObesityShort lifespan
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Eighteen Q Deletion Eighteen Q Deletion SyndromeSyndrome
1 in 10,000,000 births
46 chromosomesXY or XX
#18 Deletion of lower arm
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Eighteen Q Deletion SyndromeEighteen Q Deletion Syndrome
Mentally retardedHeart diseaseAbnormal hands and feetLarge eyesLarge earsNormal lifespan
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Cat-Eye SyndromeCat-Eye Syndrome
1 in 1,000,000 births
46 chromosomesXY or XX
#22 Deletion of bottom arm
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Cat-Eye SyndromeCat-Eye Syndrome
Fused fingers and toesMentally retardedSmall jawHeart problemsNormal lifespan
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Four-Ring SyndromeFour-Ring Syndrome
1 in 10,000,000 births
46 chromosomesXY or XX
#4 Inversion
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Four-Ring SyndromeFour-Ring Syndrome
Cleft palateClub feetTestes don’t descendShort lifespan
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Triple X SyndromeTriple X Syndrome
1 in 2,500 births
47 chromosomesXXX only
#23 TrisomyNondisjunction
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Triple X SyndromeTriple X Syndrome
Normally physically
Normal mentallyFertile