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What is Down Syndrome?

  • Down syndrome is the commonest genetic problem in human beings, affecting about 1 in 700 live births all over the world.
  • People with Down syndrome have an extra copy of chromosome number 21
  • It is the commonest cause of low IQ and developmental delay in the world.

What are chromosomes and DNA?

  • Chromosome is a thread-like structure made up of DNA, found in the nucleus of cells.
  • DNA is the genetic material that contains information that decides the sex, character, shape, etc. that a person, an animal, or a plant will have.
Down syndrome

Fig. 1

Down syndrome
Fig.2 Normal Chromosome Pattern - 46, XX/XY
(Source: MedlinePlus, National Library of Medicine)

Down Syndrome people can have an extra copy of chromosome 21 in 2 different ways –

  • There can be three separate copies of chromosome 21 (Fig.3), OR,
  • There can be a translocation, where extra copy of chromosome number 21 is attached to another chromosome as shown in the Fig.4
Down syndrome
Fig.3. 47, XX/XY+21 (Trisomy 21) – 3 copies of
Down syndrome
Fig.4. 46,XX/XY,der(14;21),+21 – translocation between chr 21 and 14

Features of Down syndrome

  • Intellectual disability – developmental delay (variable extent)
  • Cardiac problems – 40% - mild to severe (commonest is AVSD).
  • Hearing and speech problems
  • Vision – myopia, early onset cataract
  • Hypothyroidism
  • Memory loss at an earlier age
  • Leukaemia at an earlier age
  • Renal diseases

Treatment for Down syndrome

  • Chromosomal pattern cannot be changed.
  • Structural problems like cardiac defects / renal / vision/hearing problems need targeted treatment as per the system involved, child needs multidisciplinary treatment.
  • For developmental delay – early intervention and education therapy are helpful.

To read about Down syndrome screening and diagnosis in pregnancy, click here.

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