Presentation by
Dr. Amna Rauf
Dr. Aqsa Mazhar
Ward 20
§ English physician John Langdon Down first described it in 1862
§ Mongolism
§ Autosomal, neither dominant nor recessive
§ Trisomy 21 (chromosomal non-disjunction 80-92%)
§ 46+1
§ Translocation (detachment-attachment)
§ 46
§ Mosaicism (some normal cells, some abnormal)
§ Milder disease
§ APP amyloid precursor of protein gene located on chromosome 21
§ Processes amyloid beta peptide
§ Build up in the brain associated with Alzheimer’s
§ Huge effect on the brain and other tissues of the body
§ 92% have trisomy 21
§ 5% have translocations
§ 3% have mosaicism
§ 1 in 700 live births
§ Recurrence rate is 5-7%
§ Maternal age
§ Parental karyotype
§ Recurrence
§ Generalized hypotonia
§ Head circumference small
§ Flat occiput
§ Delayed closure of fontanelles
§ Flat face
§ Epicanthic folds marked
§ Small low set ears
§ Protruding tongue
§ Hair fine and sparse
§ Brushfield spots
§ Lens opacities
§ Teeth abnormalities
§ Short and broad hands and feet
§ Simian crease
§ Heart problems 40-60%
§ Bowel abnormalities
§ IQ low (around 50)
§ Delayed development of secondary sexual characteristics
§ Infertility in males RULE
§ Females usually fertile
§ Leukemia
§ Hypothyroidism
§ Newborn errors: jaundice, polycythemia, umbilical hernia, transient
leukemoid reaction
§ Clinical picture is characteristic
§ Karyotyping
§ Triple screen during pregnancy (70%)
§ Quad screen (80%)
§ Chromosome examination
§ Ultrasound scan in first trimester
§ No known treatment
§ Life expectancy 55 years (old literature)
§ Support for parents
§ Family planning advice
§ Treatments aimed at fixing medical problems arising because of the
syndrome
§ 21st March
§ PEOPLE WITH DOWN SYNDROME CAN LIVE NORMAL LIVES
§ Age 60! And even longer!!
§ Majority start working independently at age 20!!!!
§ Not contagious, not a disability