Down Syndrome

Pathophysiology/Genetics

100

The genetic concept describing the case when there are more or less chromosomes than the typical 46

Aneuploidy

200

Extra or partial copy of this chromosome causes down syndrome

chromosome 21

300

Part of chromosome 21 becomes attached to another chromosome 

Robertsonian Translocation 

400

95% of cases of down syndrome occurring due to a random error in the formation of gametes

Chromosomal Non-Disjunction 

500

The hypothesis relating to the over-expression of HSA21, explaining the phenotypes seen in DS

The gene dosage effect

Diagnosis/Related Disorders

100

Visual representation of the chromosomal make-up of an individual

Karyotype 

200

N.I.P.S.

Non-invasive prenatal screening

300

What chromosome is affected in Patau syndrome 

Chromosome 13

400

Trisomy_ has a poor prognosis in comparison to down syndrome

Trisomy 13 or 18

500

Collecting a sample of amniotic fluid

Amniocentesis

Treatment/Risk Factors

100

Increased risk for chromosomal anomalies with increased maternal age 

Maternal Age Effect 

200

Developing fine motor skills, self-care skills, and independence in daily activities

Occupational Therapy

300

Parent has a translocation involving chromosome 21 but are not diagnosed with DS themselves

Balanced Carrier 

400

Genetic factors/Inheritance

Robertsonian translocations

500

Sporadic/random chance

Chromosomal Non-Disjunction, Translocation, Mosaicism