Chromosome AbnormalitiesANEUPLOIDY

Karyotype Charts

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

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.

• 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.

Turner’s Syndrome• XO

• 45 chromosomes

• Don’t ovulate, slight mental retardation, sterile, 4’7” short, webbed neck, small wide breasts, broad chest, turned out elbows

Klinefelter’s XXYor XXXY XXXXY

• Sterile• High pitch voice• Make little

testosterone• Taller by an inch• Not homo- but

not interested in girls…

• Overweight

Gynecomastia

XXX Super-females

• Inch or so taller

• Long legs- slim torso

• Normal /fertile

• Low normal intelligence

• 1 in 1000

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

Trisomy 18 – Edwards Syndrome

• Mental retardation, seizures

• Small head

• Small wide set eyes

• Heart defects

• Clenched hands

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)

• More than 80% die in the first month

3 years old

Summarykey

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

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

# 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

13 Patau syndrome

14 Trisomy 14

15 Angelman syndromePrader–Willi 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