The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results; report on 181 patients

Genetic Testing

Volumn 1, Issue 2, 1997, Pages 99-108

  McDonald McGinn, Donna M ^a   LaRossa, Don ^a,c   Goldmuntz, Elizabeth ^a   Sullivan, Kathleen ^a   Eicher, Peggy ^a,b   Gerdes, Marsha ^b   Moss, Edward ^a,b   Wang, Paul ^a,b   Solot, Cynthia ^b   Schultz, Patricia ^a   Lynch, David ^a   Bingham, Peter ^a   Keenan, Gregory ^a   Weinzimer, Stuart ^a   Ming, Jeffrey E ^a   Driscoll, Deborah ^a,c   Clark III, Bernard J ^a   Markowitz, Richard ^a   Cohen, Alan ^a   Moshang, Thomas ^a   Pasquariello, Patrick ^a   Randall, Peter ^a,c   Emanuel, Beverly S ^a   Zackai, Elaine H ^a,c   more..

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 22; CHROMOSOME DELETION; CLEFT PALATE; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DIGEORGE SYNDROME; FACE; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; INFANT; MALE; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PRESCHOOL CHILD; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; COHORT STUDIES; DIGEORGE SYNDROME; FACE; FEMALE; GENETIC SCREENING; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; PHENOTYPE; SYNDROME;

EID: 0031291657     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1997.1.99     Document Type: Article

References (57)

1. ATTIE, A.M., MCDONALD-MCGINN, D.M., BINGHAM, P., EMANUEL, B.S., DRISCOLL, D.A., ZACKAI, E.H., and LYNCH, D.R. (1997). Neurological manifestations in patients with chromosome 22q11.2 deletions. Am. J. Med. Genet. (submitted).
2. BINGHAM, P., ZIMMERMAN, R.A., MCDONALD-MCGINN, D.M., DRISCOLL, D.A., EMANUEL, B.S., and ZACKAI, E.H. (1997). Perisylvian dysplasia associated with interstitial deletion of chromosome 22q11.2. Am. J. Med. Genet. Neuropsych. Genet. 74:538-543.
3. BUDARF, M.L., KONKLE, B.A., LUDLOW, L.B., MICHAUD, D., LI, M., YAMASHIRO, D.J., MCDONALD-MCGINN, D., ZACKAI, E.H., DRISCOLL, D.A. (1995). Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velocardio-facial chromosomal region in 22q11.2. Hum. Mol. Genet. 4(4):763-766.
4. BURN, J., TAKAO, A., WILSON, D., CROSS, I., MOMMA, K., WADEY, R., SCAMBLER, P., and GOODSHIP, J. (1993). Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22. J. Med. Genet. 30:822-824.
5. CAYLER, G.G. (1969). Cardiofacial syndrome: Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch. Dis. Child. 44:69-75.
6. DE LA CHAPELLE, A., HERVA, R., KOIVISTO, M., and AULA, P. (1981). A deletion in chromosome 22 can cause DiGeorge syndrome. Hum. Genet. 57:253-256.
7. DEVRIENDT, K., SWILLEN, A., FRYNS, J.P., PROESMANS, W., and GEWILLIG, M. (1996). Renal and urological tract malformations caused by a 22q11 deletion. J. Med. Genet. 33, 349.
8. DIGEORGE, A.M. (1965). Discussion on "A new concept of the cellular basis of immunity." Presented by Cooper, M.D., Peterson, R.D.A., and Good, R.A. J. Peds. 67, 907-908 (abstract).
9. DRISCOLL, D.A., BUDARF, M.L., and EMANUEL, B.S. (1992a). A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet. 50:924-933.
10. DRISCOLL, D.A., SPINNER, N.B., BUDARF, M.L., MCDONALD-MCGINN, D.M., ZACKAI, E.H., GOLDBERG, R.B., SHPRINTZEN, R.J., SAAL, H.M., ZONANA, J., JONES, M.C., MASCARELLO, J.T., and EMANUEL, B.S. (1992b). Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am. J. Med. Genet. 44:261-268.
11. DRISCOLL, D.A., SALVIN, J., SELLINGER, B., BUDARF, M.L., MCDONALD-MCGINN, D.M., ZACKAI, E.H., and EMANUEL, B.S. (1993). Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis. J. Med. Genet. 30:813-817.
12. DRISCOLL, D.A., CHEN, P., LI, M., CAPUTO, S., ZACKAI, E.H., MCDONALD-MCGINN, D.M., CHRISTENSEN, K., CUNEO, B.F., SAAL, H.M., SPECTOR, E., EMANUEL, B.S., and BUDARF, M.L. (1995a). Familial 22q11 deletions: Phenotypic variability and determination of deletion boundaries by FISH. Am. J. Hum. Genet. 57(45):92(abstr.)
13. DRISCOLL, D.A., RANDALL, P., MCDONALD-MCGINN, D.M., ZACKAI, E.H., LI, M., EMANUEL, B.S., and LAROSSA, D. (1995b). Are 22q11.2 chromosomal deletions a major cause of isolated cleft palate? 52nd Annual Meeting, American Cleft Palate-Craniofacial Association, Tampa, FL.
14. EICHER, P., FOX, C., MCDONALD-MCGINN, D.M., DRISCOLL, D.A., EMANUEL, B.S., and ZACKAI, E.H. (1997). Dysphagia in patients with a 22q11.2 deletion: Report of 51 patients. Pediatrics. (Submitted).
15. FRYBURG, J.S., LIN, K.Y., and GOLDEN, E.F. (1996). Chromosome 22q11.2 deletion in a boy with Opitz oculo-genito-laryngeal syndrome. Am. J. Med. Genet. 62:274-275.
16. GERDES, M., SOLOT, C., WANG, P.P., JAWAD, A., DACOSTA, A.M., LAROSSA, D., RANDALL, P., GOLDMUNTZ, B., CLARK, B.J., III, DRISCOLL, D.A., EMANUEL, B.S., MCDONALD-MCGINN, D.M., BATSHAW, M.L., and ZACKAI, E.H. (1997). Cognitive and behavioral profile of preschool children with chromosome 22q11.2 microdeletion. Am. J. Med. Genet. (Submitted).
17. GIANNOTTI, A., DIGLIO, M.C., MARINO, B., MINGARELLI, R., and DALLAPICCOLA, B. (1994). Cayler cardiofacial syndrome and del 22q11: Part of the CATCH22 phenotype. Am. J. Med. Genet. 53:303-304.
18. GOLDBERG, R., MOTZKIN, B., MARION, R., SCAMBLER, P.J., and SHPRINTZEN, R.J. (1993). Velo-cardio-facial syndrome: A review of 120 patients. Am. J. Med. Genet. 45:313-319.
19. GOLDMUNTZ, E., DRISCOLL, D., BUDARF, M.L., ZACKAI, E.H., MCDONALD-MCGINN, D.M., SIEGEL, J.A., and EMANUEL, B.S. (1993). Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J. Med. Genet. 30:807-812.
20. GREENBERG, F., ELDER, F.F., HAFFNER, P., NORTHRUP, H., and LEDBETTER, D.H. (1988). Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am. J. Hum. Genet. 43(5):605-611.
21. GRIPP, K.W., MCDONALD-MCGINN, D.M., DRISCOLL, D.A., REED, L.A., EMANUEL, B.S., and ZACKAI, E.H. (1997). Nasal dimple as part of the 22q11.2 deletion syndrome. Amer. J. Med. Genet. 69, 290-292.
22. GUION-ALMEIDA, M.L., and RICHERI-COSTA, A.R. (1992). CNS midline anomalies in the Opitz G/BBB syndrome: Report of 12 Brazilian patients. Am. J. Med. Genet. 43:918-928.
23. HARINGTON, L.H. (1829). Absence of the thymus gland. (Letter to the editor.) London Medical Gazette 3:314-320.
24. KELLEY, R.I., ZACKAI, E.H., EMANUEL, B.S., KISTENMACHER, M., GREENBERG, F., and PUNNETT, H.H. (1982). The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J. Peds. 101:197-200.
25. LAMMER, E.J., and OPITZ, J.M. (1986). The DiGeorge anomaly as a developmental field defect. Am. J. Med. Genet. Supp. 2:113-127.
26. LACASSIE, Y., and ARRIAZA, M.I. (1996). Letter to the editor: Opitz GBBB syndrome and the 22q11.2 deletion syndrome. Am. J. Med. Genet. 62:318.
27. LEVIN, S.E., SILVERMAN, N.H., and MILNER, S. (1982). Hypoplasia or absence of the depressor anguli oris muscle and congenital abnormalities, with special reference to the cardiofacial syndrome. South Afr. Med. J. 61:227-231.
28. LYNCH, D.R., MCDONALD-MCGINN, D.M., ZACKAI, E.H., EMANUEL, B.S., DRISCOLL, D.A., WHITAKER, L.A., and FISCHBECK, K.H. (1995). Cerrebellar atrophy in a patient with velocardiofacial syndrome. Am. J. Med. Genet. 32:561-563.
29. MACDONALD, M.R., SCHAEFER, G.B., OLNEY, A.H., TAMAYO, M., and FRIAS, J.L. (1993). Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies. Am. J. Med. Genet. 46:706-711.
30. MASCARELLO, J.T., BASTIAN, J.F., and JONES, M.C. (1989). Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence. Am. J. Med. Genet. 32:112-114.
31. MATSOUKA, R., TAKAO, A., KIMURA, M., IMAMURA, S.-I., KONDO, C., JOH-O, K., IKEDA, K., NISHIBATAKE, M., ANDO, M., and MOMMA, K. (1994). Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am. J. Med. Genet. 53:285-289.
32. MCDONALD-MCGINN, D.M., DRISCOLL, D.A., BASON, L., CHRISTENSEN, K., LYNCH, D., SULLIVAN, K., CANNING, D., ZAVOD, W., QUINN, N., ROME, J., PARIS, Y., WEINBERG, P., CLARK, B.J., EMANUEL, B.S., and ZACKAI, E.H. (1995). Autosomal dominant "Opitz" G/BBB syndrome due to a 22q11.2 deletion. Am. J. Med. Genet. 59:103-112.
33. MCDONALD-MCGINN, D.M., DRISCOLL, D.A., EMANUEL, B.S., and ZACKAI, H. (1996). The 22q11.2 deletion in African-American patients: An underdiagnosed population. Am. J. Hum. Genet. 59(45): 90(abstr.).
34. MCDONALD-MCGINN, D.M., ZACKAI, E.H., and LOW, D. (1997a). Letter to the editor. What's in a name? The 22q11.2 deletion. Am. J. Med. Genet. 72:247.
35. MCDONALD-MCGINN, D.M., DRISCOLL, D.A., EMANUEL, B.S., GOLDMUNTZ, E., CLARK, B.J., III, SOLOT, C., COHEN, M., SCHULTZ, P., LAROSSA, D., RANDALL, P., and ZACKAI, E.H. (1997b). Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics 99, May (http://www.pediatrics.org/cgi/content/full/99/5/e9).
36. MILLER, M., and HALL, J.C. (1979). Familial asymmetric crying fades. Its occurrence secondary to hypoplasia of the anguli oris depressor muscles. Am. J. Dis. Child. 133:743-746.
37. MING, J.E., MCDONALD-MCGINN, D.M., MEGERIAN, T.E., DRISCOLL, D.A., ELICS, E.R., RUSSELL, B.M., IRONS, M., EMANUEL, B.S., MARKOWITZ, R.I., and ZACKAI, E.H. (1997). Skeletal anomalies in patients with deletions of 22q11. Am. J. Med. Genet. 72(2):210-215.
38. MITNICK, R.J., BELLO, J.A., and SHPRINTZEN, R.J. (1994). Brain anomalies in Velo-cardio-facial syndrome. Am. J. Med. Genet. 54:100-106.
39. MOSS, E., WANG, P.P., MCDONALD-MCGINN, D.M., GERDES, M., DACOSTA, A.M., CHRISTENSEN, K., DRISCOLL, D.A., EMANUELS, B.S., BATSHAW, M.L., and ZACKAI, E.H. (1995). Characteristic cognitive profile in patients with a 22q11.2 deletion: Verbal I.Q. exceeds nonverbal I.Q. Am. J. Hum. Genet. 57(45):42(abstr.).
40. NERI, G., GENUARDI, M., NATOLI, G., COSTA, P., MAGGIONI, G. (1987). A girl with G syndrome and agenesis of the corpus callosum. Am. J. Med. Genet. 28:287-291.
41. NICKEL, R.E., PILLERS, D.M., MERKENS, M., MAGENIS, R.E., DRISCOLL, D.A., EMANUEL, B.S., and ZONANA, J. (1993). Velocardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22q11 region. Europ. J. Ped. Surg. 3(S1):27-28.
42. NICKEL, R.E., PILLERS, D.A., MERKENS, M., MAGENIS, R.E., DRISCOLL, D.A., EMANUEL, B.S., and ZONANA, J. (1994). Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. Am. J. Med. Genet. 52:445-449.
43. NICKEL, R.E., and MAGENIS, R.E. (1996). Neural tube defects and deletions of 22q11. Am. J. Med. Genet. 66:25-27.
44. SANKLECHA, M., KHER, A., and BHARUCHA, B.A. (1992). Asymmetric crying facies: The cardiofacial syndrome. J. Postgrad. Med. 38:147-150.
45. SHPRINTZEN, R.J., GOLDBERG, R.B., LEWIN, M.L., SIDOTI, E.J., BERKMAN, M.D., ARGAMASO, R.V., and YOUNG, D. (1978). A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-Facial syndrome. Cleft Palate J. 5:56-62.
46. SILENGO, M.C., BELL, G.L., BIAGIOLI, M., GUALA, A., BIANCO, R., STRANDONI, P., DESARIO, P.N., and FRANCESCHINI, P. (1986). Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. Clin. Genet. 30:481-484.
47. STRONG, W.B. (1968). Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism. J. Peds. 73:882-888.
48. SULLIVAN, K.E., JAWAD, A.F., RANDALL, P., DRISCOLL, D.A., EMANUEL, B.S., MCDONALD-MCGINN, D.M., ZACKAI, E.H. (1997). Lack of correlation between impaired T-cell production, immunodeficiency and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/velocardiofacial syndrome). Clin. Immuno. Immunopath. (in press).
49. SULLIVAN, K.E., MCDONALD-MCGINN, D.M., DRISCOLL, D.A., ZMIJEWSKI, C., ELLABBAN, A., REED, L., EMANUEL, B.S., ZACKAI, E.H., ATHREYA, B., and KEENAN, G. (1997). JRA-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis and Rheumatism 40:430-436.
50. THOMAS, J.A., and GRAHAM, J.M. (1997). Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician. Clin. Peds. 36:253-266.
51. VAN ESSEN, A.J., SCHOOTS, C.J., VAN LINGEN, R.A., MOURITS, M.J., TUERLINGS, J.H., and LEEGTE, B. (1993). Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries. Am. J. Med. Genet. 47:85-88.
52. WEINZIMER, S., MCDONALD-MCGINN, D.M., ZACKAI, E.H., and MOSHANG, T. (1996). Growth hormone deficiency in the 22q11 deletion syndrome: A report of three cases. Society of Pediatric Research, Washington, DC.
53. WILSON, D.I., BURN, J., SCAMBLER, P., and GOODSHIP, J. (1993). DiGeorge syndrome: Part of Catch 22. J. Med. Genet. 30:852-856.
54. WRAITH, J.E., SUPER, M., WATSON, G.H., and PHILLIPS, M. (1985). Velocardiofacial syndrome presenting as holoprosencephaly. Clin. Genet. 27:408-410.
55. WULFSBERG, E.A., LEANA-COX, J., and NERI, G. (1996). What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Am. J. Med. Genet. 65:817-819.
56. ZACKAI, E.H., MCDONALD-MCGINN, D.M., DRISCOLL, D.A., FEUER, J., EMANUEL, B.S., and EICHER, P. (1996a). Dysphagia in patients with a 22q11.2 deletion: Unusual pattern found on modified barium swallow. Am. J. Hum. Genet. 59(45):600(abstr.).
57. ZACKAI, E.H., MCDONALD-MCGINN, D.M., DRISCOLL, D.A., EMANUEL, B.S., CHRISTENSEN, K.M., CHIEN, P., MAHBOUBI, S., HUBBARD, A.M., WEINBERG, P., and CLARK, B.J. (1996b). Respiratory symptoms may be the first presenting sign of a 22q11.2 deletion: A study of vascular rings. Proc. Greenwood Genet. Ctr. 15:137.