CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

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• Chromosome 22 Central

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

• Microduplication 22q11 Syndrome

• The 11/22 Translocation (Emanuel Syndrome, partial trisomy 11/22)

• 22q13 Deletion Syndrome (Phelan-McDermid Syndrome)

• Cat Eye Syndrome

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TRISOMY 22 REFERENCE ARTICLES

Hall HE, Surti U, Hoffner L, Shirley S, Feingold E, Hassold T. The origin of trisomy 22: Evidence for acrocentric chromosome-specific patterns of nondisjunction. Am J Med Genet A. 2007 Aug 17.

*Mokate T, Leask K, Mehta S, Sharif S, Smith A, Saxena A, Mahmood T.  Non-mosaic trisomy 22: a report of 2 cases. Prenat Diagn. 2006 Oct;26(10):962-5.

*Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus. Beaulieu Bergeron M, Tran-Thanh D, Fournet JC, Lemyre E, Lemieux N, Bouron-Dal Soglio D. 2006. Am J Med Genet Part A 140A:1768-1772.

Case Report: Non-Mosaic trisomy 22: A report of 2 cases. Mokate T., Leask K., Mehta S., Sharif S., Smith A., Mahmood T., Prenatal Diagnosis 2006.

Second-Trimester Sonographic Findings in Trisomy 22 report of 3 cases and Review of the Literature. Sepulveda, W , et al. J Ultrasound Med, 2003. 22: 1271-1275.

Trisomy 22 in a liveborn infant with multiple congenital anomalies.
Am J Med Genet 36: 11-14(1990) McPherson E., et al

Incomplete trisomy 22 III. Mosaic trisomy 22 and the problem of full trisomy 22. Hum Genet 1981 56:269-273. Schinzel A.

Trisomy 22 - prenatal findings in various developmental stages
Geburtshilfe Frauenheilkd 1988 Oct: 48(10): 720-3. Zeres K., et al

Two live-born infants with trisomy 22. Pediatri Pathol 1990 10(6): 100-5
Phillipson J., et al

Trisomy 22 with 'cat-eye' anomoly, Cervenka, J et al, Case Reports

Paternal age & trisomy among spontaneous abortions. Hum Genet 1990 Aug; 85(3) 355-61. Hatch M et al

Trisomy 22 with congenital diaphragmatic hernia and absence of corpus callosum in a liveborn premature infant. Am J Med Genet 1992 Nov 1; 44(4); 437-8. Kim EH ., et al

Trisomy 22 in a newborn with multiple malformations. Hum Genet 1987 Jul; 76(3) 298-301. Voiculescu J., et al

Confirmation of Trisomy 22 in two cases using chromosome painting. Comparison with t(11;22). Am J Med Genet 1993 Jun 1; 46(4); 434-7
Slater HR., et al

Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Am J Med Genet 1993 Apr 1; 46(1): 68-71. Kobrynski L., et al

Apparently nonmosaic trisomy 22: clinical report and review. Am J Med Genet 1990 May; 36(1):7-10. Sundareshan TS., et al

Trisomy 22: report of a patient diagnosed as a neonate. Dis Markers 1987 Mar;5(1):13-18. Vohra K., et al

Partial Trisomy 22 with Dandy Walker malformation. Acta Paediatr. Jpn 1990 Oct;32(5):566-70
Katafuchi Y., et al

Renal agenesis and trisomy 22: case report and review. Ann Genet 1995; 38(1):44-8. Van Buggenhout GJ et al

The ocular pathology of trisomy 22: report of 2 cases and review. J Pediatr Opthalmol Strabismus 1990 Nov-Dec;27(6):310-4. Antle CM et al.

Full Trisomy 22 in a malformed newborn female. Ann Genet 1991; 34(1):44-6. Feret MA., et al.

Clinical and molecular studies of full trisomy 22: further delineation of the
phenotype and review of the literature. Am J Med Genet 1995 May 8; 56(4) 359-65. Bacino CA et al.

A female patient with partial duplication 22(q13-qter). Clin Dysmorphol 1998 Oct; 7(4): 289-94. Wieczorek D., et al.

Complete trisomy 22. Clin Genet 1978 Sept; 14(3): 139-46. Shokeir MH

Trisomy 22: No longer an enigma. Am J Med Genet 1989 Dec; 34(4):541-44. Kukolich MK., et al

Fryns Syndrome phenotype and trisomy 22. Am J Med Genet 1996 Jan 2; 61(1):68-70. Ladonne JM et al

Hydrocephalus in an infant with trisomy 22. J Med Genet 1994 Feb; 31(2):141-4. Fahmi F., et al

Trisomy 22 & Intersex. Arch Dis Child Fetal Neonatal Ed 1994 Jul; 71(1) F57-8. Nicholl RM., et al

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