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Microduplication Syndrome

Microdeletion/ Microduplication Syndrome

Microdeletion/ microduplication syndromes are disorders that are caused by the deletion or duplication of a small chromosomal segment spanning several genes that is yet too small to be detected by conventional cytogenetic methods. It can only be detected by advanced technology with high resolution.

utilities the advanced technology – Next Generation Sequencing which enables the accurate detection of microdeletions/ microduplication with a minimum size of 3Mb.

Common Microdeletion Syndrome

Condition Common Name Estimated Prevalence in New bornCommon Name
15q11 – q13 deletion (loss of function of active genes in regions on chromosome 15) Prader-Willi syndrome 1 in 10,000 – 30,000
15q11 – q13 deletion (loss of function of gene UBE3A on chromosome 15) Angelman syndrome 1 in 12,000 – 20,000
22q11.2 deletion syndrome DiGeorge syndrome 1 in 4,000
5p deletion syndrome Cri-du-chat syndrome 1 in 20,000 – 50,000
1p36 deletion syndrome Monosomy 1p36 1 in 5,000 – 10,000

Standard & Advanced panel

Reference

  • YM, Lo et al. 1997, ‘Presence of fetal DNA in maternal plasma and serum’, The Lancet, 350;485-487