CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

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• Chromosome 22 Central

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

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

• 22q13 Deletion Syndrome (Phelan-McDermid Syndrome)

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MOSAIC TRISOMY 22 REFERENCE ARTICLES

Wang JC, Dang L, Mondal TK, Khan A. Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy. Am J Med Genet A. 2007 Nov 15;143(22):2744-6. 

*Lewis B, Fulton S, Short E, Nelson S, Lombardi G, Rosenbaum D, Kercsmar C, Baley J, Singer LT. A longitudinal case study of a child with mosaic trisomy 22: Language, cognitive, behavioral, physical, and dental outcomes. Am J Med Genet A. 2007 Sep 1;143(17):2070-4.

*Mosaic Trisomy 22: Report of a Patient with Normal Intelligence. Florez, L. Lacassie, Y. Am J Med Genet 2005. 132A:223-225.

*Ocular Manifestations of mosaic trisomy 22: a case report and review of the literature. Thomas, S. et al. Ophthalmic Genetics, 25(1):53-56, 2004.

*Isochromosome 22 in Trisomy 22 Mosaic with five cell lines. Guze, C, et al. Am J Med Genet 2004. 124A:79-84

*Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect. Ruiter EM, et al, Clinical Dysmorphology, 2004, 13:99-102.

Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22. Prenatal Diagn. 1997 Jan: 17(1): 81-6. dePater JM., et al

Trisomy 22 Mosaicism limited to skin fibroblasts in a mentally retarded, dysmorphic girl. Acta Paediact. Scand 1990 Jun-Jul; 79(6-7) 714-8. Lund, et al.

Mosaic Trisomy 22: a case persentation and literature review of trisomy 22 phenotypes. Am J Med Genet 1997 Sept. 5: 71(4): 406-13. Crowe CA., et al.

Trisomy 22 Mosaicism syndrome and Ullrich-Turner Stigmata. Am J Med Genet 1986 Mar; 23(3) 739-49. Wertelecki W.

Goldenhar Sequence and mosaic trisomy 22. Am J Med Genet 1995 Dec 4; 59(4): 411-3. Pridjian G et al

Unilateral radial aplasia and trisomy 22 mosaicism. J Med Genet 1981 Dec: 18(6) 473-6. Dulitzky F., et al

Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy
following normal fetal blood sampling. Prenat Diagn 18 : 384-389 1998. Berghella, V., et al

Trisomy 22 mosaicism. Mollica F, et al. J Med Genet. 1977 Jun;14(3):224-5.

Schinzel A.   Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22.Hum Genet. 1981;56(3):269-73.

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