The meeting of the German Society of Human Genetics (gfh) was held in Weimar, Germany this week and of course the attendees had the opportunity to visit the joined booth of MetaSystems and MetaSystems Probes. Main topics of the exhibition have been the latest advancements of the Neon case and imaging platform and RapidHyb, the revolutionary fast hybridization times of MetaSystems Probes' FISH probes.
- Order Number
- Package Size
- 50 µl (5 Tests)
XL Cri-Du-Chat detects deletions in the short arm of chromosome 5. The orange labeled probe hybridizes to a chromosomal locus at 5p15.2-15.3. The green labeled probe hybridizes to a specific locus at 5q31.2 and functions as a reference probe.
Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale.
The 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 40 Mb. 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.
- Microdeletion Syndrome (MicroDel)
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