XL Cri-Du-Chat

Deletion Probe

Order Number
D-5417-050-OG
Package Size
50 µl (5 Tests)
Labels
  
Chromosome
5

Description

XL Cri-Du-Chat

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.

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Clinical Details

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)
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Images

XL Cri-Du-Chat

XL Cri-Du-Chat hybridized to lymphocytes. One normal metaphase is shown.

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Expected Patterns

Expected Pattern 1

Normal Signal Pattern:
Two green (2G) and two orange (2O) signals.

Expected Pattern 2

Aberrant Signal Pattern:
Two green (2G) and one orange (1O) signal resulting from loss of one orange signal.

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Literature

  • 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

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