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Figure 1 (far
left): Talipes
equinovarus
Figure 2 (left):
Coloboma (cat eye)
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Ears
Eyes
Nose
Cardiovascular System
Gastrointestinal System
Urogenital System
Growth and
Development
Behaviour and
Performance
nd
Biotin
Biotin anti-avidin
Avidin
Fluorescent Site
layer
st
1 layer
Probe
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Target
single strand
DNA
cardiofacial syndrome are the most common syndromes associated with 22q11 rearrangements10.
McTaggart et al. have therefore classified CES chromosomes into two types based on the location of the
two breakpoints required to generate them9. The
smaller type 1 CES chromosomes are symmetrical,
with both breakpoints located within the proximal
interval, and the large type 2 chromosomes are either
asymmetrical, with one breakpoint located in each of
the two intervals, or symmetrical, with both breakpoints located in the distal interval. The colocalisation of the breakpoints of these different syndromes,
in addition to the presence of repeats adjacent to
each interval, suggests the existence of several specific regions of chromosomal instability in 22q11.2,
which are involved in the production of both deletions and duplications. Since the phenotype associated with the larger duplication does not appear to be
more severe than that of the smaller duplication,
determination of the type of CES chromosome does
REFERENCES
1 Spencer W. The uveal tract. Ophthalmic Pathology: An Atlas
and Textbook 3rd edition. London: Saunders; 1985 p.1512.
2 Schachenmann G, Schmid W, Fraccaro M et al. Chromosomes
in coloboma and anal atresia. (Letter) Lancet II 1965;290.
3 Gardner RJM, Sutherland GR. Chromosome Abnormalities and
Genetic Counselling 2nd edition, London: Oxford University
Press, 1996, p.12.
4 Schinzel A, Schmid W, Fraccaro M et al. The cat eye syndrome: dicentric small marker chromosome probably derived
from a no.22(tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the
clinical picture. Human Genetics 1981;57(2):148-158.
5 Frizzley JK, Stephan MJ, Lam AN, et al. Ring
Duplication/Deletion Mosaicism: clinical, cytogenetic and
molecular characterisation. J Med Genet 1999;36(3):237-241.
6 Cat Eye Syndrome. Available at: Cat eye syndrome: Online
medelian inheritance in man (OMIM ref #115470), John Hopkins
University http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id
=115470 Accessed February 9, 2001.
7 Luleci G, Bagci G, Kivran M et al. A hereditary bisatellitedicentric supernumery chromosome in a case of cat eye syndrome. Hereditas 1989;11:7-10.
8 Riazi MA, Brinkman-Mills P, Nguyen T. et al. The human
homolog of insect-derived growth factor, CECR1, is a candidate
gene for features of cat eye syndrome. Genomics 2000;64(3):277285.
9 McTaggart KE, Budarf ML, Driscoll DA et al. Cat eye syndrome chromosome breakpoint clustering: identification of two
intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenetics & Cell Genetics 1998;81(3-4):222-228.
10 Edelmann L, Pandita RK, Spiteri E et al. A common molecular basis for rearrangement disorders on chromosome 22q11.
Human Molecular Genetics 1999;8(7):1157-1167.
11 Lissauer T, Clayden G. Illustrated Textbook of Paediatrics.
London: Mosby Publishing;1997, p.53.
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