REFERENCES
1. Jones KL, Jones MC, Campo M. Chromosomal abnormality syndromes identifiable on routine karyotype. In: Smith ' s Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013.
2. Schachenmann G, Schmid W, Fraccaro M, et al. Chromosomes in Coloboma and Anal Atresia. Lancet. 1965 2( 7406): 290.
3. Denavit TM, Malan V, Grillon C, et al. A new case of a severe clinical phenotype of the cat-eye syndrome. Genet Couns. 2004; 15( 4): 443-448.
4. McKusick, V. Cat Eye Syndrome; CES. Online Mendelian Inheritance in Man, OMIM ®. https:// omim. org / entry / 115470. Published 1986. Updated 2006. Accessed February 2022.
5. Li J, Zhang Y, Diao Y, et al. A de novo sSMC( 22) characterized by highresolution chromosome microarray analysis in a Chinese boy with cat-eye syndrome. Case Rep Genet. 2021; 2021:1-4.
6. Rosias PR, Sijstermans JM, Theunissen PM, et al. Phenotypic variability of the cat-eye syndrome. Case report and review of the literature. Genet Couns. 2001; 12( 3): 273-82.
7. Jedraszak, G., Jobic, F., Receveur, A., et al. Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases. American Journal of Medical Genetics Part A,
2004. 194A: e63476.
8. Solomon BD. The etiology of VACTERL association: Current knowledge and hypotheses. Am J Med Genet Part C. 2018; 178C: 440 – 446.
9. Gardner, R. J. and Amor, D. J. Autosomal Structural Arrangements Deletions and Duplications. In: Gardner and Sutherland ' s Chromosomal Abnormalities and Genetic Counseling. 5th ed. New York, NY: Oxford University Press; 2018: 333.
10. Barry BJ, Whitman MC, Hunter DG, et al. Duane Syndrome. 2007 May 25 [ Updated 2019 Aug 29 ]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews ® [ Internet ]. Seattle( WA): University of Washington, Seattle; 1993-2024. Available from: https:// www. ncbi. nlm. nih. gov / books / NBK1190 /
26 • www. wvsma. org