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SALSA MLPA KIT P023-B DIGEORGE SYNDROME / VCFS
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PLEASE NOTE: a new version of this probemix is available: SALSA MLPA kit P250 DiGeorge. This P023B probemix will remain available without changes. The P250 mix contains more 22q11 probes but some of the P250 probes might be replaced in future lots, depending on feedback from clients. Copy number changes of the 22q11 chromosomal region occur frequently and cause a variety of disorders, including the DiGeorge syndrome (DGS; MIM 188400), Velocardiofacial syndrome (VCFS; MIM 192430) and Cat eye syndrome (CES; MIM 115470). DiGeorge syndrome is characterized by neonatal hypocalcemia, which may present as tetany or seizures, susceptibility to infection due to a deficit of T cells and specific facial characteristics. A variety of cardiac malformations are seen in particular affecting the outflow tract. In the older child the features overlap Shprintzen syndrome (velocardiofacial syndrome). Short stature and variable mild to moderate learning difficulties are common. A variety of psychiatric disorders have been described in a small proportion of adult cases of velocardiofacial syndrome, including paranoid schizophrenia and major depressive illness. DGS and VCFS have a large clinical overlap and are both caused by deletions of a specific 1-3 Mb region on chromosome 22q11. The overall birth prevalence of 22q11 deletions appears to be approximately 1 in 4.000, with 75% of these patients having cardiac abnormalities. Deletion of 22q11 appears to be the second most common cause of congenital heart disease after Down syndrome. Cat eye syndrome (CES) has a large phenotypic variability, ranging from near normal to severe malformations. The eyes are preferential affected. CES is caused by the presence of an extra 22q11 copy, present as a small extra chromosome, frequently having two centromeres. Although 90% of cases of DGS appear to be due to a 22q11 deletion, other chromosome defects with features of DiGeorge anomaly have also been described. The probemix of this MLPA assay contains probes for several of these regions such as 10p14, 4q22, 4q34 and 17p13. The high frequency of 22q11 copy number changes is due to the presence of four copies of a repeat sequence (LCR22). These LCR22 sequences apparently mediate different homologous recombination events, thereby generating a number of rearrangements and copy number changes. The extend of 22q11 deletions is variable, although 87% extend from the first till the last LCR22 repeat. This probemix can be used to distinguish the most common types of deletion.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0706 (July 2006) Current Lot Number.: Lot 1106
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References 2007 -- 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. 2007 -- Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. 2006 -- MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. 2005 -- Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.
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