TRISOMIES

Abnormal number of chromosomes.

TRISOMY 21 (Down
Syndrome)
•  Chromosome 21 is the smallest human chromosome.
•  Most common chromosomal abnormality in world, 1 /1000
babies born.
•  Named a>er Bri@sh doctor John Langdon Down.
•  1959, gene@c cause of down syndrome, an extra 21
chromosome was discovered.
•  Trisomy 21 has features of
•  Physical growth
•  Facial features
•  Intellectual disability

Risk Factors
•  95% of cases of down syndrome are due to meio@c non
disjunc@on.
•  4% of cases are due to Robertsonian transloca@on.
•  14q,21q

•  Chance of Down syndrome at age 20 years is 0.1%

•  At age of 45 increase to 3%
Sign and Symptoms
•  Most common cause of Intellectual disability.
•  Flat facies
•  Slanted eyes.
•  Protruding tongue
•  Shortened neck.
•  Shortened hands
•  Single palmer crease
•  Gap between 1 and 2nd toe.
•  Stunted growth.
•  Average height of 5’1’’

Associated Diseases
•  Visual abnormali@es
•  Strabismus
•  Cataracts
•  Glaucoma
•  Brushfield spot (Small gray/white spot outer part of iris.

•  Hearing
•  O@@s media with effusion (50-70%)
•  Chronic ear infec@on (50-70%)

Associated Diseases
•  Congenital Heart Defect
•  Arterioventricular septal defect
•  Ventricular septal defect
•  Tetralogy of Fallot.

•  Alzheimer Disease
•  Abnormally folded APP ( APP gene is coded on chromosome 21)
•  Widespread cor@cal atrophy
•  Narrow gyri and widening of sulci
•  Demen@a

 Associated Diseases
•  Gastrointes@nal Disease
•  Duodenal atresia
•  Hirschsprung Disease
•  Cons@pa@on in nearly 50% of pa@ent.

•  Leukemia
•  Acute Lymphoblas@c Leukemia
•  Acute Myeloid Leukemia

Diagnostic factors
•  Prenatal Screening
•  1st Trimester ultrasound
•  Increase nuchal translucency, hypo-plas@c nasal bone.
•  Blood test: Free beta. hCG increase
PAPP-A decrease

•  Quad screening ( Third Trimester)
•  α-fetoprotein and estriol decrease, 
•  β-hCG and inhibin A increase.


Confirmatory test
•  Amniocentesis
•  Chorionic villus sampling.
•  Not done before 10 weeks gesta@on.
Treatment

•  No cure for down syndrome

•  Educa@on and proper care have shown to improve quality of
life.
•  Specialized educa@on

•  Support in financial and legal mager is o>en needed.

References
•  Wikipedia Down Syndrome Published june 9th 2018
hgps://en.wikipedia.org/wiki/Down_syndrome

•  NDSS Na@onal Down Syndrome
hgps://www.ndss.org/about-down-syndrome/down-syndrome/

•  US Na@onal Library of Medicine Down syndrome- Gene@cs home Reference
hgps://ghr.nlm.nih.gov/condi@on/down-syndrome

•  Advances in Pediatric Publica@on year 2015
hgps://www.ncbi.nlm.nih.gov/pmc/ar@cles/PMC4464633/

Medline Plus Down Syndrome Publica@on May 21 2018
hgps://medlineplus.gov/downsyndrome.html