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EDWARD SYNDROME - Respiratory problems

- Short lifespan
- Clenched fist with overriding fingers
(index finger overlapping the third and fifth - Small bird-like head
finger overlapping the 4th.

KLINEFELTER SYNDROME
TURNERS SYNDROME - 1 in 1,100 births
- 1 in 5,000 births - 47 chromosomes XXY only
- 45 chromosomes X only - #23 Trisomy Nondisjunction
- #23 Monosomy Nondisjunction - Scarce beard
- 96-98% do not survive to birth - Longer fingers and arms
- No menstruation - Sterile
- No breast development - Delicate skin
- Narrow hips - Low mental ability
DOWN SYNDROME - Normal lifespan

- 46 chromosomees JACOB’S SYNDROME


- XY=97% - 1 in 1,800 births
- XX- 3% - 47 chromosomes XYY only
- 14/31 translocation - #23 Trisomy Nondisjuction
- #21 trisomy non disjunction - Normal physically
- VSD - Normal mentally
- Short, broad hands - Increase in testosterone
- Stubby fingers - More aggressive
- Small round face - Normal lifespan
- Short lifespan PATAU’S TRISOMY SYNDROME
- Rough skin
- Impotency in males - 1 in 14,000 births
- Mentally retarded - 47 chromosomes XY or XX
- Protruding tongue - #13 Trisomy Nondisjunction
- Small head
CRI-DU-CHAT SYNDROME - Small or missing eyes
- Heart defects
- 1 in 216,000 births - Extra fingers
- 46 chromosomes - Abnormal genitalia
- #5 deletion of lower arm - Mentally retarded
- Moon shaped face - Cleft palate
- Mentally retarded - Most die a few weeks after birth
- Malformed larynx
- Heart disease BURKITT LYMPHOMA
- Normal lifespan - Translocation of the Myc gene on
- Broad shoulders and neck chromosome 8
PRADER – WILLI SYNDROME - Normal Myc genes control cell growth
division
- 1 in 5,000,000 births - Translocated Myc genes don’t function
- 46 chromosomes; XY = 97%; XX = 3% properly
- #15 Deletion of lower arm - Leads to cancer of the lymph nodes
- Mentally retarded
- Obesity

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