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Downsyndrome 150808111351 Lva1 App6892
Downsyndrome 150808111351 Lva1 App6892
By : Najihah
Introduction
It is named after Langdon Down who
first described it in 1866.
Most common chromosomal disorder
(frequency of 1:800 – 1:1000 newborns).
It is the most common causes of
mental retardation.
Occurs more often when the mother conceive
at older age.
Risk Age of the mother
1:1550 15-29 yr
1:800 30-34 yr
1:270 35-39 yr
1:100 40-44 yr
1:50 > 45 yr
Cytogenetics
1. Meiotic non-disjunction of
chromosome 21 (94%)
- May produce an extra copy of chromosome 21
(Trisomy 21) in egg (95%) or sperm (5%).
3. Mosaicism (1%)
Clinical Features and Diagnosis
- Mental and physical
retardation.
- Flat facies.
- Upward slant of
eyes.
- Epicanthic folds.
- Oblique palpebral
fissure.
- Low set ears
5. Thyroid dysfunction
- 13-54% have hypothyroidism.
- Thyroid function test recommended during neonatal
period.
6. Atlanto-occipital subluxation
- Displacement of atlanto-occipital joint can cause cord
compression.
- 10-30% cases
Associated Abnormalies
7. Physical growth.
- Linear growth is retarded and tend to become obese
with age.
- Muscle tone improves with age whereas the
developmental progress slows with age.
- Regular followup for height and weight is necessary.
8. Malignancies
- Prone to develop lymphoproliferative disorders,
including acute lymphoblastic leukemia (ALL) , acute
myeloid leukemia (AML) , myelodisplasia and transient
lymphoproliferative syndrome.
Prenatal Diagnosis
indication for screening and diagnostic tests :
- > 35 years old
- Previous child with down’s syndrome
- Translocation carrier state in parents
- History of genetic defect in family
Screening Tests
1. Antenatal ultrasonogram
- 1st trimester
Measurement of nuchal translucency (NT) -
Excess nuchal fluid accumulation is produced
in down’s syndrome foetus
- 2nd trimester
increased nuchal fold thickness
Short femur and humerus
2. Triple test (16 weeks)
- Maternal serum marker
Decreased -fetoprotein
Decreased unconjugated oestriol
Increased HCG
3. Fetal Karyotype
Chorionic villus sampling and amniocentesis
Detect non-disjunction, translocation or
mosaicism.
Management and Prognosis