Card Set Information
What are risk factors of trisomies?
exposure to radiation/mutagenic drug
What is hypotoni
eventually resolves--> tend to be short
mouth open and tongue protrudes
What is the most common chromosomal abnormality?
What are some symptoms of Trisomy 21
faces are flattened
gaps between toes
brushfold spots on iris
What is considered as mental retardation?
What disease are they prone to as they get older?
amyloid precursor protein (APP)
What is clinodatyly?
pinkie finger is bent towards the finger
What is etiology?
the reasons that abn occurs
What are the 2 main chromo structures?
3 whole copies (95% of cases)
2 whole copies and a piece (how much) (translocation)
What are the mechanisms for this to occur?
non disjunction during gametogenesis (95%)
maternal meiosis I (90%)
paternal meiosis II (10%)
What are the rare cases of T21?
have fewer phenotypic
46, XX or XY, 21 trans 14
4% of cases
this is known as balanced translocation
Who is at higher risk for having a Downs baby?
parent with Robertsonian
What is the mutation of parents?
translocation parent [rob, 14;21]
What are some screening test?
What are definite ways to determine T21?
karyotype or FISH at birth
What are other ways to see if T21?
: blood test
What is found in sonograms?
nuchal translucency (thickness of neck)
What are some diagnostic test?
chronic villus sampling
percutaneous umbilical cord sampling
What is trisomy 18 occurrence?
: 10000 more in females
rocker bottom feet
What is trisomy 13?
>80% die in the first few months
cleft lip/palate, microcephaly, cardiac, etc
What is Cri du Chat?
this is having a
of chromo 5
mapping bands to the protein in that band
What are the pheno in Cats cry syndrome?
hypertelorism, epicanthic folds