Chromosomal Disorders
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1
how many chromosomes are we born with
46 (23 pairs) of chromosomes, ½ from each parent
2
- Give body information to grow and develop
chromosomes
3
occur when whole chromosomes added or missing
numerical abnormalities
4
occur when part of a chromosome is affected
structural abnormalities
5
- Born with an extra cop of a chromosome
- Can cause mental and physical challenges
- About 1 in 700 babies
- Maternal age is a risk factor
- 3 types
- Can cause mental and physical challenges
- About 1 in 700 babies
- Maternal age is a risk factor
- 3 types
down syndrome
6
what are the three types of down syndrome
o Trisomy 21 (95%)
o Translocations Down syndrome (3%)
o Mosaic Down Syndrome (2%, some cells have normal number of chromosomes)
o Translocations Down syndrome (3%)
o Mosaic Down Syndrome (2%, some cells have normal number of chromosomes)
7
when and how is down syndrome diagnosed
- Typically diagnosed in utero
o Blood testing
o Ultrasound (nuchal fold testing)
o Amniostesis (measure fluid on the back of neck)
o Blood testing
o Ultrasound (nuchal fold testing)
o Amniostesis (measure fluid on the back of neck)
8
what are some co-occuring conditions for down syndrome
o Hearing loss
o Sleep apnea
o Ear/eye conditions
o Heart defects present at birth
o Sleep apnea
o Ear/eye conditions
o Heart defects present at birth
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