Warkany Syndrome 2: Causes, Symptoms, and Treatment

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)