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  • Print publication year: 2005
  • Online publication date: August 2009

11 - Genetic counseling


The 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velo-cardio-facial syndrome (VCFS) and conotruncal anomaly face syndrome and in some patients with autosomal dominant Opitz G/BBB syndrome and Cayler cardiofacial syndrome. In looking at the inheritance of the 22q11.2 deletion, it is clear that the majority of cases occur as a de novo event. This is reportedly due to the inherent structure of the deletion. Specifically, a number of low copy repeats make this region especially susceptible to rearrangements. Genetic counseling for an adult with the 22q11.2 deletion is often quite difficult due, in part, to the wide inter- and intrafamilial variability of the deletion. Genetic counseling for the general population is more complicated and should be considered on a case-by-case basis when anatomic abnormalities are seen on fetal ultrasonography, or following significant findings from a careful family history.

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Bawle, E. V., Conard, J., Dyke, D. al. (1998) Letter to the Editor: seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. Am. J. Med. Genet., 79, 406–10.
Bergoffen, J., Punnett, H., Campbell, T. al. (1993) Diaphragmatic hernia in tetrasomy 12p mosaicism. J. Pediatr., 122 (4), 603–6.
Burn, J., Takao, A., Wilson, al. (1993) Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22. J. Med. Genet., 30, 822–4.
Consegave, M. W., Seip, J. R., Belchis, D. al. (1996) Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome. Am. J. Cardiol., 77, 1023–5.
Cormier-Daire, V., Iserin, L., Theophile, al. (1995) Upper limb malformations in DiGeorge syndrome. Am. J. Med. Genet., 56, 39–41.
Chapelle, A., Herva, R., Koivisto, al. (1981) A deletion in chromosome 22 can cause DiGeorge syndrome. Hum. Genet., 57, 253–6.
Devriendt, K., Swillen, A., Fryns, J. al. (1996) Renal and urological tract malformations caused by a 22q11 deletion. J. Med. Genet., 33, 349.
Devriendt, K., Smet, L., Boeck, al. (1997) DiGeorge syndrome and unilateral symbrachydactyly. Genet. Counsec., 8, 345–7.
Digilio, M. C., Giannotti, A., Marino, al. (1997) Radial aplasia and chromosome 22q11 deletion. J. Med. Genet., 34, 942–4.
Driscoll, D. A., Budarf, M. L. & Emanuel, B. S. (1992a) A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet., 50, 924–33.
Driscoll, D. A., Spinner, N. B., Budarf, M. al. (1992b) Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am. J. Med. Genet., 44, 261–8.
Driscoll, D. A., Salvin, J., Sellinger, al. (1993) Prevalence of 22q11 microdeletions in DGS and VCFS: implications for genetic counseling and prenatal diagnosis. J. Med. Genet., 30, 813–17.
Driscoll, D. A., Chen, P., Li, al. (1995a) Familial 22q11 deletions: phenotypic variability and determination of deletion boundaries by FISH. Am. J. Hum. Genet., 57, 92 (abstr).
Driscoll, D. A., Randall, P., McDonald-McGinn, D. M. et al. (1995b) Are 22q11.2 chromosomal deletions a major cause of isolated cleft palate? 52nd Annual Meeting, American Cleft Palate-Craniofacial Association, Tampa, FL.
Edelman, L., Pandita, R. K. & Morrow, B. E. (1999) Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am. J. Hum. Genet., 64, 1076–86.
Eicher, P. S., McDonald-McGinn, D. M., Fox, C. al. (2000) Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. J. Pediatr., 137 (2), 158–64.
Emanuel, B. S., Budarf, M. L., Shaikh, T., et al. (1998) Blocks of duplicated sequence define the endpoints of DGS/VCFS 22q11.2 deletions. Am. J. Hum. Genet., 63, A11(abstr).
Fraser, F. C. (1980) The genetics of cleft lip and palate: Yet another look. In Pratt, R. M. & Christiansen, R. L., eds., Current Research Trends in Prenatal Craniofacial Development. Amsterdam: Elsevier Publishers.
Freeman, S. B., Taft, L. F., Dooley, K. al. (1998) Population-based study of congenital heart defects in Down syndrome. Am. J. Med. Genet., 80 (3), 213–17.
Fryburg, J. S., Lin, K. Y. & Golden, E. F. (1996) Chromosome 22q11.2 deletion in a boy with Opitz oculo-genito-laryngeal syndrome. Am. J. Med. Genet., 62, 274–5.
Gerdes, M., Solot, C., Wang, P. al. (1999) Cognitive and behavioral profile of preschool children with chromosome 22q11.2 microdeletion. Am. J. Med. Genet., 85 (2), 127–33.
Giannotti, A., Diglio, M. C., Marino, al. (1994) Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am. J. Med. Genet., 30, 807–12.
Goldmuntz, E., Clark, B. J., Mitchell, L. al. (1998) Frequency of 22q11 deletions in patients with conotruncal defects. J. Am. Coll. Cardiol., 32, 492–8.
Gripp, K. W., McDonald-McGinn, D. M., Driscoll, D. al. (1997) Nasal dimple as part of the 22q11.2 deletion syndrome. Am. J. Med. Genet., 69, 290–2.
Hatchwell, E., Long, F., Wilde, al. (1998) Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11. Am. J. Med. Genet., 78, 103–6.
Kawame, H., Adachi, M., Tachibana, al. (2001) Graves' disease in patients with 22q11.2 deletion. J. Pediatr., 139 (6), 892–5.
Keenan, G. F., Sullivan, K. E., McDonald-McGinn, D. al. (1997) Letter to the editor: arthritis associated with 22q11.2: more common than previously suspected. Am. J. Med. Genet., 71, 488.
Kelley, R. I., Zackai, E. H., Emanuel, B. al. (1982) The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J. Pediatr., 101, 197–200.
LaCassie, Y. & Arriaza, M. I. (1996) Letter to the Editor: Opitz GBBB syndrome and the 22q11.2 deletion syndrome. Am. J. Med. Genet., 62, 318.
Lynch, D. R., McDonald-McGinn, D., Zackai, E. al. (1995) Cerebellar atrophy in a patient with velocardiofacial syndrome. J. Med. Genet., 32, 561–3.
Matsouka, R., Takao, A., Kimura, al. (1994) Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am. J. Med. Genet., 53, 285–9.
McDonald-McGinn, D. M., Driscoll, D. A., Bason, al. (1995) Autosomal dominant “Opitz” GBBB syndrome due to a 22q11.2 deletion. Am. J. Med. Genet., 59, 103–13.
McDonald-McGinn, D. M., Emanuel, B. S., Zackai, E. H. (1996) Letter to the Editor: Autosomal dominant “Opitz” GBBB syndrome due to a 22q11.2 deletion. Am. J. Med. Genet., 64, 525–6.
McDonald-McGinn, D. M., Driscoll, D. A., Emanuel, B. al. (1996) The 22q11.2 deletion in African-American patients: an underdiagnosed population. Am. J. Hum. Genet., 59, A20.
McDonald-McGinn, D. M., LaRossa, D., Goldmuntz, al. (1997a) The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genetic Testing, 1, 99–108.
McDonald-McGinn, D. M., Driscoll, D. A., Emanuel, B. al. (1997b) Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics, 99, 1–5.
McDonald-McGinn, D. M., Kirschner, R., Gripp, K. et al. (1999a) Craniosynostosis: another feature of the 22q11.2 deletion syndrome. American Cleft-Palate Craniofacial Association 56th Annual Meeting and Conference Symposium, Scottsdale, AZ.
McDonald-McGinn, D. M., Kirschner, R., Goldmuntz, al. (1999b) The Philadelphia Story: The 22q11.2 Deletion: Report on 250 Patients. Genetic Counseling, 10 (1), 11–24.
McDonald-McGinn, D. M., Tonnesen, M. K., Laufer-Cahana, al. (2001a) Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide fluorescence in situ hybridizationing net!Genet. Med., 3, 23–9.
McDonald-McGinn, D. M., Driscoll, D. A., Tonnesen, al. (2001b) Parent of origin does not determine phenotype in the 22q11.2 deletion. Am. J. Hum. Genet., 69, 285 (A597).
McDonald-McGinn, D. M., Tonnesen, M. K., Saitta, S. et al. (2002a) The Philadelphia Story: Update on our Population of Patients with a 22q11.2 deletion. Deletion 22q11.2 Third International Meeting, Rome, Italy, June 7–8.
McDonald-McGinn, D. M., Driscoll, D. A., Saitta, al. (2002b) Guidelines for prenatal detection of the 22q11.2 deletion. Am. J. Hum. Genet., 71 (4), 198 (A173).
Ming, J. E., McDonald-McGinn, D. M., Megerian, T. al. (1997) Skeletal anomalies in patients with deletions of 22q11. Am. J. Med. Genet., 72, 210–15.
Moss, E. M., Batshaw, M. L., Solot, C. al. (1999) Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J. Pediatr., 134, 193–8.
Nickel, R. E. & Magenis, R. E. (1996) Neural tube defects and deletions of 22q11. Am. J. Med. Genet., 66, 25–7.
Prasad, C., Quackenbush, E. J., Whiteman, al. (1997) Limb anomalies in DiGeorge and CHARGE syndromes. Am. J. Med. Genet., 68, 179–81.
Reardon, W., Wilkes, D., Rutland, al. (1997) Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural craniosynostosis. J. Med. Genet., 34, 632–6.
Russell, K. L., McDonald-McGinn, D. M., Mahle, W. et al. (2000) Congenital diaphragmatic hernia in the 22q11.2 deletion. Presentation, Second International 22q11.2 Deletion Meeting, June 22–25, Philadelphia, PA.
Ryan, A. K., Goodship, J. A., Wilson, D. al. (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet., 34, 798–804.
Sandrin-Garcia, P., Macedo, C., Martelli, L. al. (2002) Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin. Genet., 61, 380–3.
Scambler, P. J., Carey, A. H., Wyse, R. al. (1991) Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics, 10 (1), 201–6.
Schinzel, A. (2001) In Catalogue of Unbalanced Chromosome Aberrations in Man. New York: Walter de Gruyter, Inc., pp. 846–57.
Shaikh, T. H., Kurahashi, H., Saitta, S. al. (2000) Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum. Mol. Genet., 9, 489–501.
Solot, C., Knightly, C., Handler, al. (2000) Communication disorders in the 22q11.2 microdeletion syndrome. J. Comm. Dis., 33, 187–204.
Solot, C. B., Gerdes, M., Kirschner, R. al. (2001) Communication issues in 22q11.2 deletion syndrome: children at risk. Genet. Med., 3, 67–71.
Sullivan, K. E., McDonald-McGinn, D. M., Driscoll, D. al. (1997) JRA-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheumatism, 40, 430–6.
Sullivan, K. E., Jawad, A. F., Randall, al. (1998) The frequency and severity of immunodeficiency in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/Velocardiofacial syndrome). Clin. Immunol. Immunopathol., 86, 141–6.
Sullivan, K. E., McDonald-McGinn, D., Driscoll, D. al. (1999) Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/Velocardiofacial syndrome). Clin. Diagn. Lab. Immunol., 6, 906–11.
Thompson, J. S. & Thompson, M. W. (1986) Genetics in Medicine, 4th Edn. Philadelphia, PA: W. B. Saunders Company.
Tonnesen, M., McDonald-McGinn, D. M., Valverde, al. (2001) Affected parents with a 22q11.2 deletion: the need for basic and ongoing educational health, and supportive counseling. Am. J. Hum. Genet., 69 (4), 223 (A241).
Wang, P., Solot, C., Gerdes, al. (1998) Developmental presentation of 22q11.2 deletion. Dev. Behav. Pediatr., 19, 342–5.
Weinzimer, S. A., McDonald-McGinn, D. M., Driscoll, D. al. (1998) Growth hormone deficiency in patients with a 22q11.2 deletion: expanding the phenotype. Pediatrics, 101, 929–32.
Wilson, D. I., Cross, I. E., Goodship, J. al. (1992) A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am. J. Hum. Genet., 51, 957–63.
Wu, H-Y., Rusnack, S. L., Bellah, R. al. (2002) Genitourinary malformations in chromosome 22q11.2 deletion. J. Urology, 168, 2564–5.