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Nondisjunction disorders
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Nondisjunction Nondisjunction—When chromosomes fail to separate during meiosis. This can happen at anaphase I or II.
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Human male karyotype, written as 46 XY
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Human female karyotype, written as 46 XX
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Down Syndrome 47, XX or XY, +21
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Down Syndrome 1 in 700 births 47 chromosomes XY or XX
#21 Trisomy Nondisjunction
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Down Syndrome Short, broad hands Stubby fingers Mentally retarded
Small round face Protruding tongue Shorter lifespan Slanted eyes
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Patau syndrome 47, XX or XY, Trisomy 13
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Patau’s Trisomy Syndrome
1 in 10,000 births 47 chromosomes XY or XX 47, +13 #13 Trisomy Nondisjunction
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Patau’s Trisomy Syndrome
Small head Small or missing eyes Heart defects Extra fingers Abnormal genitalia Mentally retarded Cleft palate Most die before birth; some survive a few weeks after birth
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Edwards Syndrome 47, XY, +18
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Edward’s Trisomy Syndrome
1 in 2500 pregnancies, 1 in 6000 births 47 chromosomes XX=80% XY=20% #18 Trisomy Nondisjunction
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Edward’s Trisomy Syndrome
Small head Mentally retarded Internal organ abnormalities 90% die before 5 months of age
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No abnormal appearance/behavior fertile
Jacob’s syndrome XYY No abnormal appearance/behavior fertile
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Jacob’s Syndrome 1 in 1,000 boys 47 chromosomes XYY only
#23 Trisomy Nondisjunction
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Jacob’s Syndrome Normal physically Normal mentally
Associated with risk of learning disabilities. Once thought to be more aggressive Normal lifespan
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Klinefelter’s Syndrome
XXY, male
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Klinefelter’s Syndrome
1 in births 47 chromosomes XXY only #23 Trisomy Nondisjunction
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Klinefelter’s Syndrome
Scarce beard Longer fingers and arms Sterile Low testosterone Delicate skin Possible learning disabilities Normal lifespan More X chromosomes could cause worse symptoms (XXXY)
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Turner Syndrome 45, X
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Turner Syndrome Occurs in about 1 in 2,500 births
Many do not survive to birth No menstruation No breast development No hips Broad shoulders and neck
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Trisomy X 47 XXX symptoms healthy and fertile - cannot be distinguished from normal female except by karyotype
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Triple X Syndrome 1 in 1,000 births 47 chromosomes XXX only
#23 Trisomy Nondisjunction
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