[The human genome--chromosome 5].
From the historical aspect the fifth human chromosome is associated with the cri-du-chât syndrome conditioned by deletion of the short arms. The fifth human chromosome is the carrier of genes the pathogenic alleles of which cause one of the most frequent recessive hereditary diseases of child age--spinal muscular atrophy (SMA), the development of tumours of the large bowel and a group of haematological malignant conditions which are part of the so-called 5q-syndrome. It is the carrier of some important gene families-complement, interleukins and growth factors and their receptors; loss of some of them participates in the mentioned 5q-syndrome.
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Ustav Hematologie a Krevní Transfuze, Praha.
D002895:Chromosomes, Human, Pair 5; D005826:Genetics, Medical; D006801:Humans
Lidský genom--chromozom c. 5.