Presented By

Cri Du HADIQA AIMEN

FA19/RMG/006
Chat
Syndrome
(Cry of the Cat)
 Cri du chat syndrome, also
known as chromosome 5p
deletion syndrome

5p deletions, whether terminal or

interstitial, occur at different
breakpoints
Introduction
Discovered by a geneticist
named Jerome Lejeune

The variability seen among individuals

may be attributed to the differences in
their genotypes.
Genetics graphics
Molecular Characterization
• 5p deletions can be interstitial or terminal and range from 560 kb to
40 Mb in size
• not have any terminal deletions greater than 33 Mb
• 5p deletions are most commonly de novo occurrences
• which are paternal in origin in 80–90% of cases
• Terminal deletions comprise 80–90% of cases and interstitial deletions
account for 3–5% 
• Less common mechanisms include mosaicism (1.4%), inversions
(0.5%), or ring chromosomes (0.5%)
Chromosome 5p
gene dosage map
• There is also phenotypic heterogeneity among family members with
the same deletion
• parents of affected children with 5p– deletions who themselves have
the same deletion yet do not appear to have any symptoms 
• siblings born to these parents, despite having inherited the same
deletion, vary with respect to features such as growth and
development 
• No imprinted genes have been identified
• Following factors had not been explored
• effects of modifier genes
• additional copy number variants
• mutations or allelic variation in the homologous allele
• occult duplications
• epigenetic modifications
• coexisting diagnoses
• variable expressivity
• environmental factors
• members of families in which the deletion was maternally inherited
were observed to have only mild growth and developmental delays
versus families in whom it was paternally inherited

• If there are de novo cases with the same breakpoints, a comparison

analysis of those whose hemizygous alleles are paternal versus
maternal in origin may elucidate whether phenotypic differences exist
 Inheritance
• Caused by a dominant trait.
• CTNND2 is an important gene
• CTNND2 gene usually makes the
delta catenin protein.
• This protein works in the nervous
system and helps with cell
movement.
• The loss of CTNND2 may cause
Delta Catenin protein severe brain damage in some
patients.
 • The TERT gene provides instructions for making one
component of an enzyme called telomerase. Telomerase
TERT maintains structures called telomeres, which are composed of
repeated segments of DNA found at the ends of chromosomes.
Telomeres protect chromosomes from abnormally sticking
together or breaking down (degrading).
 Detailed map of the cat-like cry ‘critical region’. (a) STS marker positions, (b) known genes and EST
sequences identified and (c) predicted exons identified by Genscan program in the cat-like cry ‘critical
region’. Plus and minus mark the two different DNA strands
 No specific treatment

Treatment Genetic counseling

Therapy to improve skills needed in life

like:
language skills
motor skills
Statistics
90% randomly-occurring deletion

10% occurs purely by inheritance

1 in 20,000 to 50,000 newborns

The male to female ratio is 3:4

30% of infants with cri-du-chat have heart defects

1/3 of infants lose the catlike cry at age 2

Conclusion
 • htmhttp://rarediseases.about.
com/cs/criduchatsynd/a/010
704.htm

Works cited • http://health.nytimes.com/he

alth/guides/disease/cri-du-
chat-syndrome/overview.html
• http://www.ghr.nlm.nih.gov/co
ndition/cri-du-chat-
syndrome#genes
• http://www.ncbi.nlm.nih.gov/p
mc/articles/PMC1574300/
• http://www.criduchat.asn.au/crid
uchat/joel
• https://onlinelibrary.wiley.com/doi
/pdf/10.1002/ajmg.c.31444