Microdeletion Syndromes



This SALSA® MLPA® P245 Microdeletion Syndromes-1 probemix has been developed to screen patients presenting with unexplained developmental delay and/or mental retardation for multiple microdeletion syndromes simultaneously. Results suggesting a deletion or duplication of a given chromosomal region can be confirmed by other techniques or by a syndrome-specific MLPA probemix. For nearly all syndromes included in this P245 probemix, a larger number of probes for the chromosomal region(s) involved is present in the P371, P372, P373 and P374 probemixes.


This SALSA® MLPA® P245 probemix has a limited number of probes for each specific chromosomal region and will therefore not detect all possible causes of the syndromes included. For example, 70% of Prader-Willi cases are caused by a large deletion of a 15q region which should be detected by this P245 probemix. However, the methylation changes in the SNRPN gene region, which are another common cause of this syndrome, will not be detected. These methylation changes can be detected using the SALSA® MS-MLPA probemix ME028 Prader-Willi/Angelman. In case a particular phenotype of the patient indicates a specific microdeletion syndrome, we recommend also using a condition-specific MLPA probemix and/or another suitable technique to study the particular microdeletion syndrome suspected.


The microdeletion syndromes-1 detected with this probemix P245 include:
  • 1p36 deletion syndrome*
  • 2p16 microdeletion
  • 2q23 microdeletion / MBD5
  • 2q33 microdeletion / SATB2
  • 3q29 microdeletion
  • 9q22.3 microdeletion
  • 15q24 deletion syndrome*
  • 17q21 microdeletion*
  • 22q13 / Phelan-McDermid*
  • Cri du Chat syndrome, 5p15*
  • DiGeorge syndrome 22q11*
  • Distal 22q11 region
  • DiGeorge region 2, 10p15
  • Langer-Giedion syndrome, 8q
  • Miller-Dieker syndrome, 17p*
  • NF1 microdeletion syndrome
  • Prader-Willi / Angelman*
  • MECP2 / Xq28 duplication*
  • Rubinstein-Taybi syndrome
  • Smith-Magenis syndrome*
  • Sotos syndrome 5q35.3*
  • Williams syndrome*
  • Wolf-Hirschhorn 4p16.3*