Warkany Syndrome 2: Causes, Symptoms, and Treatment

This presentation provides an overview of Warkany Syndrome 2, a rare chromosomal disorder caused by the presence of three copies of chromosome 8. It covers its causes, symptoms, treatment, and occurrence rate. Additionally, it lists support organizations and therapies for individuals with Warkany Syndrome 2.

Warkany syndrome 2
 Name of the student:
 Name of the university:
 Author note:

Definition :
A karyotype defined as the appearance and number of the chromosome in
eukaryotic cells’ nucleus . The study of karyotypes is made possible by
staining the metaphase or pro-metaphase chromes using Giemsa staining.
Fit was first observed by Carl Wilhelm von Nägeli in plant cells in 1842
(Welsh et al. 2016).
The factors that can be observed:
• The difference in the absolute size of the chromosome
• The difference in the size due to segmental interchange
• The difference in Position of centromere because of translocation
• The difference in the number and satellites position
• The difference in the degree and distribution of the
heterochromatic region.
• Give the understanding of the evolution and diversity (Esatoglu et al.
2015) Figure: karyotype
Source:(Esatoglu et al.
2015)

Cat eye syndrome
• Cat eye syndrome (CES) refers to a rare
chromosomal disorder that may be evident at
birth.
• chromosomal make-up have two 22nd
chromosomes and individual with cat eye shows
partial tetrasomy ( inverted duplications).
• symptoms are Coloboma and other eye
abnormalities, Ear Abnormalities, Anal
Figure: cat eyes
Source:(Esatoglu et
al. 2015)

Warkany syndrome 2
CAUSE:
Warkany syndromes defined as a human chromosomal disorder caused due to presence of three copies of
chromosome 8. It can be mosaic or without mosaic. It is defined as a lethal conditions which has a severe
effect on the fetus and increase the chance of the miscarriage. The trisomy 8 developed in specific cells
during non-disjunction.
Unique features:
 Individuals with trisomy 8 have more chances to survive till adulthood.
 No certain changes can be observed.
 They have retarded psychomotor development
 Moderate to severe mental disability
 Expressionless face (Esatoglu et al. 2015)
 Variable growth pattern , abnormally short or tall
 Visceral and eye abnormalities , also have a cat eye like features
 Stiff joints, Absent malformed kneecap
Figure: trisomy 8
Source:(Esatoglu et
al. 2015)

OCCUARNCE RATE OF WARKENY
SNDROMES
 OCCURANCE:
 It is a rare disorder that affects males more often compared to females with 4 to1 Ratio. A
study suggested that it has occurred in one of our 500000 pregnancy(Vial et al. 2016).
However, chances Of having on than trisomy 8 are relatively low. More than 120 people
reported the occurrence in the United States (Esatoglu et al. 2015)
 TREATMENT:
Since it affects many different areas, medical management is required depending on the
symptoms. In certain cases, heart surgeries are recommended. However, facial deformities
are difficult to treat. The surgery will help to address any speech delay or impairment.


Figure: trisomy 8
Source (Welsh et
al. 2016).

Therapies and prognosis
 Therapies:
Individuals with motor skills inabilities often seek therapeutic assistance.
These therapies are including:
 Walking
 occupational therapy
 Early intervention
 special education (Vial et al. 2016)
Prognosis:
If most of the cells have an extra chromosome, the prognosis is negative. It is
a fatal condition which causes miscarriage. Individuals with few affected cells
can live normal span (Vial et al. 2016)
.
Figure: deep plantar
creases on hands and feet
Source:(Esatoglu et al.
2015)

Organizations to provide support :
 Support and advocacy group can provide valuable services
and help to connect with other patients and families. There
is much supportive origination that supports the disease.
These are Following:
 Chromosome Disorder Outreach (CDO)
 Hope For Trisomy (Esatoglu et al. 2015)
 Support Organization for Trisomy 18, 13, and Related
Disorders (SOFT)
 Unique – Rare Chromosome Disorder Support Group Figure:
trisomy 8
Source:
(Esatoglu et
al. 2015)

 References:
Esatoglu, S. N., Hatemi, G., Salihoglu, A., Hatemi, I., Soysal, T., & Celik, A. F. (2015). A reappraisal of the
association between Behçet's disease, myelodysplastic syndrome and the presence of trisomy 8: a systematic
literature review. Clinical and experimental rheumatology, 33(6 Suppl 94), S145-51.
Vial, Y., Lachenaud, J., Verloes, A., Besnard, M., Fenneteau, O., Lainey, E., ... & Drunat, S. (2018). Down syndrome-
like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome. Haematologica, 103(6),
e274-e276.
Welsh, C., Khalili, S., Hazrati, L.N. and Mireskandari, K., 2018. Congenital Corneal Opacities Associated With
Trisomy 8 Mosaicism Syndrome. Cornea, 37(12), pp.1596-1600.

Thank you