Post on 14-Dec-2015
transcript
Human Human male male karyotypkaryotype, e, written written
as as 46 46 XYXY
Human Human female female karyotypkaryotype, e, written written
as as 46 46 XXXX
Jacob’s syndromeJacob’s syndrome
XYYNo abnormal
appearance/behaviorfertile
Jacob’s SyndromeJacob’s Syndrome
1 in 1,800 births
47 chromosomesXYY only
47XYY
#23 Trisomy Nondisjunction
Jacob’s SyndromeJacob’s Syndrome
Normal physicallyNormal mentallyIncrease in testosteronePerhaps more aggressiveNormal lifespan
Klinefelter’s SyndromeKlinefelter’s Syndrome
XXY, male
Klinefelter’s SyndromeKlinefelter’s Syndrome
1 in 1,100 births
47 chromosomesXXY only
47, XXY
#23 Trisomy Nondisjunction
Klinefelter’s Klinefelter’s SyndromeSyndrome
Scarce beardLonger fingers and armsSterileDelicate skinLow mental abilityNormal lifespan
Patau Patau syndromesyndrome
47, XX, +13
Patau’s Trisomy Patau’s Trisomy SyndromeSyndrome
1 in 14,000 births
47 chromosomesXY or XX
47, +13
#13 Trisomy Nondisjunction
Small headSmall or missing eyesHeart defectsExtra fingersAbnormal genitaliaMentally retardedCleft palateMost die a few weeks after birth
Patau’s Trisomy Patau’s Trisomy SyndromeSyndrome
Down SyndromeDown Syndrome47, XY, +21
1 in 1,250 births
47 chromosomesXY or XX
#21 Trisomy Nondisjunction
Down Syndrome
Down SyndromeDown Syndrome
Short, broad hands Stubby fingersRough skinImpotency in malesMentally retardedSmall round faceProtruding tongueShort lifespan
Edward’s Trisomy Edward’s Trisomy SyndromeSyndrome
1 in 4,400 births
47 chromosomesXX=80%
XY=20%
#18 Trisomy Nondisjunction
Edward’s Trisomy SyndromeEdward’s Trisomy Syndrome
Small headMentally retardedInternal organ abnormalities90% die before 5 months of age
Turners SyndromeTurners Syndrome
45, X
Turners SyndromeTurners Syndrome
96-98% do not survive to birthNo menstruationNo breast developmentNo hipsBroad shoulders and neck
Trisomy 16, monosomy XTrisomy 16, monosomy X
46, X, +16Not viable beyond 1st
trimester
Trisomy XTrisomy X47 XXX symptoms
1/1000healthy and fertile -
cannot be distinguished from normal female except by karyotype
Robertsonian Translocation Robertsonian Translocation 13-1413-14
Several types, with varying results.
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.
Cri-du-chat SyndromeCri-du-chat Syndrome
5p- site
Moon-shaped faceHeart diseaseMentally retardedMalformed larynxNormal lifespan
Aniridia-Wilms Tumor Aniridia-Wilms Tumor SyndromeSyndrome
1 in 50,000,000 births
46 chromosomesXY or XX
#11 Deletion of upper arm
Aniridia-Wilms Tumor SyndromeAniridia-Wilms Tumor Syndrome
Mentally retardedGrowth retardedBlindnessTumors on kidneysShort lifespan
Thirteen Q Deletion Thirteen Q Deletion SyndromeSyndrome
1 in 500,000 births
46 chromosomesXY or XX
#13 Deletion of lower arm
Thirteen Q Deletion SyndromeThirteen Q Deletion Syndrome
Mentally retardedDeformed faceNo thumbsHeart diseaseShort lifespan
Prader-Willi Prader-Willi SyndromeSyndrome
1 in 5,000,000 births
46 chromosomesXY=97% XX=3%
#15 Deletion of lower arm
Prader-Willi SyndromePrader-Willi Syndrome
Small bird-like headMentally retardedRespiratory problemsObesityShort lifespan
Eighteen Q Deletion Eighteen Q Deletion SyndromeSyndrome
1 in 10,000,000 births
46 chromosomesXY or XX
#18 Deletion of lower arm
Eighteen Q Deletion SyndromeEighteen Q Deletion Syndrome
Mentally retardedHeart diseaseAbnormal hands and feetLarge eyesLarge earsNormal lifespan
Cat-Eye SyndromeCat-Eye Syndrome
1 in 1,000,000 births
46 chromosomesXY or XX
#22 Deletion of bottom arm
Cat-Eye SyndromeCat-Eye Syndrome
Fused fingers and toesMentally retardedSmall jawHeart problemsNormal lifespan
Four-Ring SyndromeFour-Ring Syndrome
1 in 10,000,000 births
46 chromosomesXY or XX
#4 Inversion
Four-Ring SyndromeFour-Ring Syndrome
Cleft palateClub feetTestes don’t descendShort lifespan
Triple X SyndromeTriple X Syndrome
1 in 2,500 births
47 chromosomesXXX only
#23 TrisomyNondisjunction
Triple X SyndromeTriple X Syndrome
Normally physically
Normal mentallyFertile