When an Extra Chromosome is One Too Many

By Dr Zilfalil Alwi

CORRUPTION to genes passed down to the baby from his parents can cause a myriad of problems. Having that additional chromosome 13, 18 or 21 can make a whole of difference, writes DR ZILFALIL ALWI.

AFTER trying for almost three years, Aishah and her husband, Samad (not their real names), were thrilled to find out that she was pregnant.

However, their happiness was shortlived as the baby had gross deformities of the face and hands. The baby also has gross brain and heart defects and doctors told them it would not live long.

Blood test for chromosome analysis revealed an abnormality on chromosome 13, a condition called Trisomy 13 or Patau Syndrome.

Trisomy 13 is a condition in which a patient has three copies of chromosome 13 instead of the usual two.

This results in the body having 47 chromosomes instead of the usual 46.

A baby with Trisomy 13 has gross cranio-facial abnormalities. The middle part of the face and brain fails to develop resulting in an empty space.