CHROMOSOME 22 CENTRAL 
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• 22q11 Deletion Syndrome (DiGeorge Syndrome, Velocardiofacial Syndrome)

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• 22q13 Deletion Syndrome (Phelan-McDermid Syndrome)

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CAT EYE REFERENCE ARTICLES

Sinha CK, Grewal A, Ward HC. Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association. J Pediatr Surg. 2007 Aug;42(8):1454-6.

Avior G, et al. Associated brachial clefts in the cat eye syndrome. Harefuah. 146(2) 99-101, 166-7. February 2007. Article in Hebrew.

Win TN, Roberts S, Laws D. Duane syndrome associated with the Cat Eye syndrome: a case report. Eye. 2006 Sep 22; PMID: 17001329

Gomez-Lado C, Eiris J, Martinez-Yriarte JM, Blanco O, Castro-Gago M. R Duane's syndrome and 22 marker chromosome: A possible cat-eye syndrome. Acta Paediatr. 2006 Nov;95(11):1510-1. PMID: 17062489

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C.  A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance. Hum Genet. 2006 Aug;120(1):77-84. PMID: 16708226

*FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II. Gentile, M., De Sanctis, S., Cariola, F., Spezzi T., Di Carlo, A, Tontoli, F., Buonadonna, A. L., European Journal of Medical Genetics. 48 (2005) 33-39.

*A new case of a severe clinical phenotype of the cat-eye syndrome. Denavit TM, Malan V, Grillon C, Sanlaville D, Ardalan A, Jacquemont ML, Burglen L, Taillemite JL, Portnoi MF. Genet Couns. 2004;15(4):443-8.

*Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. Meins, M, et al. J Med Genet. 2003. 40

*Cloacal defect in a 23-year-old with 47,XXX karyotype and clinical features of Cat Eye syndrome., Jonston, K.M. J Obstet Gynaecol. 2002 Nov;22(6):696

*Bull's Eye Maculopathy in Cat-Eye Syndrome, Steffen, H, et al, Journal of Retinal and Vitreous Diseases, 2002 Volum 22, No. 2, pages 223-225.

*Anaesthetic Management of Cat Eye Syndrome, Devavaram, P, et al, Pediatric Anaesthesia 2001, 11, 745-750

*Phenotypic Variability of the cat eye syndrome. Case report and review of the literature. Rosias, PPR, et al, Genetic Counseling, Vol 12., No. 3., 2001, pp 273-282

*Analysis of the Cat Eye Syndrome Critical Region in Hmans and the Region of Conserved Synteny in Mice: A search for candidate genes at or neat the Human Chromosome 22 Pericentromere. Footz, TK, et al. Genome research, 11:1053-1070, 2001

*Phenotypic Variability of Cat-Eye Syndrome, Berends, MJW, et al, Genetic Counseling, Vol. 12, No. 1., 2001

*The Human Homolog of Insect-Derived Growth Factor, CECR1 Is a Candidate Gene for Features of Cat Eye Syndrome. Genomics 64, 277-285 2000. Riazi MA, et al

*A 1.5-Mb contig within the cat eye syndrome critical region at human chromosome 22q11.2.. Genomics. 1999 Apr 15;57(2):306-9. Johnson A, et al.           

*The Gene for Death Agonist BID Maps to the Region of Human 22q11.2 Duplicated in Cat Eye Syndrome Chromosomes and to Mouse Chromosome 6. Genomics 51, 472-475 1998. Footz, TK, Birren B, Minoshima S, Asakawa S, Shimizu N, Riazi MA, Mcdermid HE

*Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation. J Med Genet 36(3) March 1999 237-241 (refers to CES)
Frissley JK, Stephan, MJ, Lamb, AN, Jonas, PP, Hinson RM, Moffitt DR, Shkolny DL, McDermid HE

*Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet Cell Genet 81:222-228 1998. McTaggart KE, Budarf ML, Driscoll DA, Emanuel, BS, Ferreira P, McDermid HE

The "cat eye" syndrome--report of a case with hypothyroidism.Ioan D, Dumitriu L, Fabritius K, Simescu M, Maximilian C Endocrinologie. 1986 Apr-Jun;24(2):129-31

*Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature. Mahboubi S, Templeton JM. Jr Pediatr Radiol 1984;14(6):441-2

The Cat Eye Syndrome with Unusual Skeletal Malformations. Balci, S. et al
Acta Paediact. Scand 63: 623-626, 1974

*A Hereditary bisatellite-dicentric supernumary chromosome in a case of Cat
Eye syndrome, LuLeci, G et al. Hereditas 111: 7-10 1989

Association of Hirschprung's disease and imperforate anus in a patient with
"Cat Eye" syndrome: A report of one case and review of the literature.
Mahboubi S, et a; Pediatri Radiol 1984 14: 441-442

*Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis. Magenis RE, Sheehy RR, Brown MG, McDermid HE, White BN, Zonana J, Weleber R Am J Med Genet 1988 Jan;29(1):9-19

*Cat eye syndrome associated with aganglionosis of the small and large intestine.
Ward J, Sierra IA, D'Croz E. J Med Genet 1989 Oct;26(10):647-8

*Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am J Hum Genet 1995 Sep;57(3):667-73
Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR

Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.
Tupler R, Hoeller A, Pezzolo A, Maraschio P. Ann Genet 1994;37(3):153-5

Renal function evaluation in an adult female with cat-eye syndrome.
Bellinghieri G, Triolo O, Stella NC, Gemelli M, Musolino R, Monardo P, Savica V
Am J Nephrol 1994;14(1):76-9

*Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome. Urioste M, Visedo G, Sanchis A, Sentis C, Villa A, Ludena P, Hortiguela JL, Martinez-Frias ML, Fernandez-Piqueras J. Am J Med Genet 1994 Jan 1;49(1):77-82

Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.
Knoll JH, Asamoah A, Pletcher BA, Wagstaff J. Am J Med Genet 1995 Jan 16;55(2):221-4

*Typical and partial cat eye syndrome: identification of the marker chromosome by FISH. Liehr, T et al Clin Genet 1992 42: 91-96

*The "Cat Eye Syndrome": Dicentric Small Marker Chromosome Probably Derived from a No. 22 (Tetasomy 22pter-q11) Associated with a Characteristic Phenotype. Report of 11 Patients and Delineation of the Clinical Picture. Schinzel, A, et al, Hum Genet (1981) 57: 148-158

*Syndromal Associations of Imperforate Anus: the Cat Eye Syndrome: Gerald, PS
et al Birth Defects: Original Article Series Vol VIII, No.2 Mar 1972

*A Newborn with the Cat Eye Syndrome Fryns, JP Hmangenetik 15, 242-248 1972

*The Cat Eye Syndrome, Cory, CC Arch Opthalmol Vol 92 Sept 1974

Parental Origin of the extra Chromosome in the Cat Eye Syndrome: Evidence from Heteromorphism and In Situ Hybridization Analysis. Magenis, RE. Am J Med Genet 29: 9-19 1988

*Characterization of the Supernumerary Chromosome in Cat Eye Syndrome, McDermid, H., et al, Science, Vol 232, pg 646-648, May 2, 1986

* Marker Chromosome in cat eye syndrome, Letters to the Editor. Verma, RS, et al, February 15, 1985

*Cat Eye Syndrome with different marker chromosomes in a mother and
daughter. MG Pauls, et al. Am J Med Genet 26: 621-628 1987

*Absence of Immunoglobulin Sequences on the Supernumerary chromosome of
the Cat Eye Syndrome. Hough, CA et al. Am J Med Genet 58:277-281 1995

*Letter to the Editor: Inverted duplication of 22pter-q11.21 in Cat Eye Syndrome. Hoo, Joe J. Am J Med Genet 24:543-545 1986

Cat's eye syndrome with cleft soft palate. Nakamura K. Ann Plast Surg. Jan 14(1):77-80. 1985.

*The Aetiology of the cat eye syndrome reconsidered. Guanti G., Jour Med Genet 1981 18: 108-118

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. Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA. Hum Genet 1981;57(2):148-58

Association of Familial Duane Anomaly and Urogenital Abnormalities with a
bi-satellited marker derived from chromosome 22 Cullen, P et al Am J Med
Genet 47: 925-930 1993

Cat eye syndrome with hypogonadotropic hypogonadism. Masukawa H, Ozaki T, Nogimori T. Intern Med 1998 Oct;37(10):853-6

*The cat eye syndrome with unusual skeletal malformations, Balci, S., et al, Acta Pediatr Scanda 63: 623-626, 1974

*The Cat Eye Syndrome: Review and two further cases occurring in female siblings with normal chromosomes. Franklin RC, Parslow MI, Acta Paediat Scand. 61: 581-586 1972

*Dermatoglyphics and Chromosomes in Cat-eye Syndrome, Darby, C.W. et al, British Medical Journal, July 3, 1971, pgs 47-48

*Anal Atresia eye anomalies and an additional small abnormal acrocentric chromosome (47, xx mar) Report of a case. Weber F et al Journal of Pediatrics Ap 1970

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