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Patau syndrome

Background

Trisomy 13: 13+ syndrome; Patau syndrome

Patau syndrome is a severe chromosomal abnormality in which the child has an extra chromosome 13. This is usually present in every cell.

Chromosome are rod-like structures present in the nucleus of all body cells, with the exception of the red blood cells. They are made up of several thousand genes which store genetic information. Normally humans have 23 pairs of chromosomes, the unfertilised ova and each sperm carrying a set of 23 chromosomes. On fertilisation the chromosomes combine to give a total of 46 (23 pairs). A normal female has an XX pair and a normal male an XY pair.

What are the symptoms? View What are the symptoms?

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated December 2005 by Professor I Young, Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, UK.

 

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