Chromosome Abnormalities ANEUPLOIDY

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Chromosome AbnormalitiesANEUPLOIDY

• Karyotype Charts

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• 1 single Y chromosome is a sufficient to produce
  maleness while its absence is necessary for
  femaleness

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Down Syndrome

• Trisomy 21
• Often Down syndrome is associated with poor
  physical development and mental retardation,
  people with Down syndrome have features
  characteristic feature of the disease has been
  nimita and mongolism.

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• When meiosis goes wrong
• Errors at meiosis occur more often in the egg
  cell as women get older, so the chances of a
  couple having a baby with Down syndrome rises
  from about one in 1400 in women under the age of
  25, to one in a 100 by age 40.

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Turners Syndrome

• XO
• 45 chromosomes
• Dont ovulate, slight mental retardation,
  sterile, 47 short, webbed neck, small wide
  breasts, broad chest, turned out elbows

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Klinefelters XXYor XXXY XXXXY

• Sterile
• High pitch voice
• Make little testosterone
• Taller by an inch
• Not homo- but not interested in girls
• Overweight

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Gynecomastia
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XXX Super-females

• Inch or so taller
• Long legs- slim torso
• Normal /fertile
• Low normal intelligence
• 1 in 1000

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XYY syndrome

• Supermales
• Tall above 6 feet
• Act normal
• Produce HIGH levels of testosterone
• Puberty- slender, severe acne, poorly coordinated
• Fertile
• Serial Killers- not true,
• But wife beaters? Maybe

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Trisomy 18 Edwards Syndrome

• Mental retardation, seizures
• Small head
• Small wide set eyes
• Heart defects
• Clenched hands

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Patau Syndrome Trisomy 13

• Cleft lip or palate
• Clenched hands (with outer fingers on top of the
  inner fingers)
• Close-set eyes -- eyes may actually fuse together
  into one
• Decreased muscle tone
• Extra fingers or toes (polydactyly)
• Hernias umbilical hernia, inguinal hernia
• Hole, split, or cleft in the iris (coloboma)
• Low-set ears
• Mental retardation, severe
• Scalp defects (missing skin)
• Seizures
• Single palmar crease
• Skeletal (limb) abnormalities
• Small eyes
• Small head (microcephaly)
• Small lower jaw (micrognathia)
• Undescended testicle (cryptorchidism)

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• More than 80 die in the first month

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3 years old
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Summary
key
color significance
lethal
normal female phenotype
normal male phenotype
Turner's syndrome (abnormal female)
Klinefelter's syndrome (abnormal male)
Non-autosomal
0 X XX XXX XXXX XXXXX
0 00 X0 XX XXX XXXX XXXXX
Y Y0 XY XXY XXXY XXXXY XXXXXY
YY YY XYY XXYY XXXYY XXXXYY XXXXXYY
YYY YYY XYYY XXYYY XXXYYY XXXXYYY XXXXXYYY
YYYY YYYY XYYYY XXYYYY XXXYYYY XXXXYYYY XXXXXYYYY
YYYYY YYYYY XYYYYY XXYYYYY XXXYYYYY XXXXYYYYY XXXXXYYYYY
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key
color significance
case where complete non-mosaic trisomy can never survive to term
case where complete non-mosaic trisomy can occasionally (barring other complications) survive to term
case where complete non-mosaic trisomy can always (barring other complications) survive to term
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Autosomal
monosomy trisomy
1 Trisomy 1
2 Trisomy 2
3 Trisomy 3
4 Wolf-Hirschhorn syndrome Trisomy 4
5 Cri du chat5q deletion syndrome Trisomy 5
6 Trisomy 6
7 Williams syndrome Trisomy 7
8 Warkany syndrome 2
9 Trisomy 9
10 Trisomy 10
11 Jacobsen syndrome Trisomy 11
12 Trisomy 12
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13 Patau syndrome
14 Trisomy 14
15 Angelman syndromePraderWilli syndrome Trisomy 15
16 Trisomy 16
17 Miller-Dieker syndromeSmith-Magenis syndrome Trisomy 17
18 18q deletion syndrome Edwards syndrome
19 Trisomy 19
20 Trisomy 20
21 Down syndrome
22 DiGeorge syndrome Cat eye syndromeTrisomy 22