About 100 guests from 36 countries met on the XVIII. MetaSystems Distributor Meeting (DM) in November to exchange experiences and to get to know new trends and developments at MetaSystems.
MetaSystems DM2019 Largest in History
XL Cri-Du-Chat
Deletion Probe
- Order Number
- D-5417-050-OG
- Package Size
- 50 µl (5 Tests)
- Chromosome
- 055
- Regulatory Status
- IVDD
IVDR Certification
MetaSystems Probes has already certified a large part of its portfolio, according to IVDR. For organizational reasons, we currently provide only the IVDD product.
Discover all IVDR-certified products
XL Cri-Du-Chat consists of an orange-labeled probe hybridizing to a region at 5p15.2-15.3 including the markers D5S1976, D5S2064 and D5S1518E and a green-labeled probe hybridizing to a region at 5q31.2.
Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.
Cri-du-Chat syndrome (CdCS), or 5p-minus syndrome, was first described by Lejeune et al in 1963, a French pediatrician and geneticist. The name refers to the main clinical feature of the syndrome, a characteristic cat-like cry in early childhood. The severity of further symptoms as microcephaly, mental retardation, delayed development, craniofacial manifestations, and other anomalies may vary strongly among individuals.
CdCS is a rather frequent microdeletion syndrome with an incidence of about 1:15.000 to 1:50.000 live births. The majority of patients carry a terminal deletion of the short arm of chromosome 5 with breakpoints ranging from 5p13 to 5p15.2 with a size of up to 40Mb. Most 5p deletions occur de novo, probably during spermatogenesis. Breakpoints are not well defined and differ between CdCS cases. Only a few patients have an interstitial deletion, translocations or other less common aberrations. Patient studies established a link between the size of the deleted region and the CdCS phenotype and identified regions 5p15.2 and 5p15.3 responsible for dysmorphism, mental retardation, and the cat-like cry.
Clinical Applications
- Microdeletion Syndrome (MicroDel)
XL Cri-Du-Chat hybridized to lymphocytes. One normal metaphase is shown.
Normal Signal Pattern:
Two green (2G) and two orange (2O) signals.
Aberrant Signal Pattern:
Two green (2G) and one orange (1O) signal resulting from loss of one orange signal.
- Lejeune et al (1963) C R Hebd Seances Acad Sci 257:3098-3102
- Mainarid et al (2001) J Med Genet 38:151-158
- Nguyen et al (2015) Am J Med Genet C Semin Med Genet 169c:224-238
Fact Sheet (English)Fact Sheet (Chinese)Package Insert (EN)Package Insert (IT)Probes Catalog
Certificate of Analysis (CoA)
or go to CoA DatabaseSecond MetaSystems User Day in Altlussheim, Germany
Neon, the outstanding MetaSystems case and image management system, offers many tools and helpful gadgets to streamline routine workflows, for example in cytogenetics labs. The second MetaSystems User Day, addressed to MetaSystems clients from Germany, Austria, and Switzerland, provided in different workshops knowledge helping to unleash the full power of the system.
OOO MetaSystems Russia on the International Scientific Congress 'Genetics of XXI Century'
The Congress 'Genetics of XXI Century' in Moscow, Russia (May 2019) has been one of the most important events for the professional international community of geneticists. Our partner company in Russia OOO MetaSystems considered it a good occasion to present the new camera CoolCube 4 connected to a state-of-the-art Neon system to the public.
