Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis

Journal of Medical Genetics

Volumn 30, Issue 10, 1993, Pages 813-817

  Driscoll, D A ^a   Salvin, J ^a   Sellinger, B ^a   Budarf, M L ^a   McDonald McGinn, D M ^a   Zackai, E H ^a   Emanuel, B S ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; CONTROLLED STUDY; COSMID; DIGEORGE SYNDROME; DNA PROBE; FLUORESCENCE; GENETIC COUNSELING; HIGH RISK PREGNANCY; HUMAN; HUMAN CELL; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL;

EID: 0027370619     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.30.10.813     Document Type: Article

References (31)

1. Lammer, E.J.; Opitz, J.M. The DiGeorge anomaly as a de-Prevalence of 22ql 1 microdeletions in DiGeorge and velocardiofacial syndromes velopmental field defect Am J Med Genet 1986 29 113
2. Back, E.; Stier, R.; Bohsen, N.; Adlung, A.; Hameister, H. Partial monosomy 22pter--11 in a newborn with the clinical features of trisomy 13 syndrome Ann Genet (Paris) 1980 23 244
3. la Chapelle A, De; R, Herva; M, Koivisto Aula 0. A deletion in chromosome 22 can cause DiGeorge syndrome Hum Genet 1981 10.1007/BF00278938 57 253
4. Kelley, R.I.; Zackai, E.H.; Emanuel, B.S.; Kistenmacher, M.; Greenberg, F.; Punnett, H. The association of the DiGeorge anomalad with partial monosomy of chromosome 22 J Pediatr 1982 10.1016/S0022-3476(82)80116-9 101 197
5. Greenberg, F.; Crowder, W.E.; Paschall, V.; J-, Colon-Linares; C, Lubianski; B, Ledbetter; D.H. Familial DiGeorge syndrome and associated partial monosomy of chromosome 22 Hum Genet 1984 10.1007/BF00291554 65 317
6. Greenberg, F.; Elder, F.F.B.; Haffner, P.; Northrup, H.; Ledbetter, D.H. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly Am J Hum Genet 1988 43 605
7. Augusseau, S.; Jouk, S.; Jalbert, P.; Prieur, M. DiGeorge syndrome and 22q1 1 rearrangements Hum Genet 1986 10.1007/BF00282098 74 206
8. Bowen, P.; Pabst, H.; Berry, D.; Collins-Nakai, R.; Hoo, J.J. Thymic deficiency in an infant with a chromosome t(l8; 22)t(ql2.2; p 11.2)pat arrangement Clin Genet 1986 29 174
9. El-Fouly, M.H.; Higgins, J.V.; Kapur, S.; Matisoff, D.N.; CostaFox, M. DiGeorge sequence in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction Am J Med Genet 1991 10.1002/ajmg.1320380415 38 569
10. Faed, M.J.W.; Robertson, J.; Swanson Beck, J.; Carter, J.I.; Bose, B.; Madlon, M.M. Features of DiGeorge syndrome in a child 1987 J Med Genet 24 225
11. Pivnick, E.K.; Wilroy, R.S.; Summit, J.B.; Tucker, B.; Herro, J.G. Tharapel AT. Adjacent-2 disjunction of a maternal t(9; 22) leading to duplication 9pter-*q22 and deficiency of 22pter-.ql 1.2 Am J Med Genet 1990 10.1002/ajmg.1320370121 37 92
12. Wilson, D.I.; Cross, I.E.; Goodship, J.A. et at. A prospective cytogenetic study of 36 cases of DiGeorge syndrome Am J Hum Genet 1992 51 957
13. Schmickel, R.D. Contiguous gene syndromes: a component of recognizable syndromes J Pediatr 1986 10.1016/S0022-3476(86)80377-8 109 231
14. Fibison, W.J.; Budarf, M.; McDermid, H.; Greenberg, F.; Emanuel, B.S. Molecular studies of DiGeorge syndrome AmJ Hum Genet 1990 46 888
15. Driscoll, D.A.; Budarf, M.L.; Emanuel, B.S. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22ql 1 Am 7 Hum Genet 1992 50 924
16. Carey, A.H.; Kelly, D.; Halford, S. Molecular genetic study of the frequency of monosomy 22ql 1 in DiGeorge syndrome Am J Hum Genet 1992 51 964
17. Emanuel, B.S.; Driscoll, D.; Goldmuntz, E. Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. In: Phenotypic analysis of Down syndrome and other aneuploid conditions
18. Driscoll, D.A.; Spinner, N.B.; Budarf, M.L. Deletions and microdeletions of 22ql 1.2 in velo-cardio-facial syndrome Am J Med Genet 1992 10.1002/ajmg.1320440237 44 261
19. Kelly, D.; Goldberg, R.; Wilson, D. Confirmation that the velo-cardio-facial syndrome is associated with haploinsufficiency of genes at chromosome 22 Am J Med Genet 1993 10.1002/ajmg.1320450306 45 308
20. Shprintzen, R.J.; Goldberg, R.B.; Lewin, M.L. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome Cleft Palate J 1978 15 56
21. Shprintzen, R.J.; Goldberg, R.B.; Young, D.; Wolford, L. The velo-cardio-facial syndrome: a clinical and genetic analysis Pediatrics 1981 67 167
22. Williams, M.A.; Shprintzen, R.J.; Goldberg, R.B. Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases J Craniofac Genet 1985 5 175
23. Shprintzen, R.J.; Wang, F.; Goldberg, R.; Marion, R. The expanded velo-cardio-facial syndrome: additional features of the most common clefting syndrome Am J Hum Genet 1985 37 77
24. Wilson, T.A.; Blethen, S.L.; Vallone, A. The DiGeorge anomaly with renal agenesis in infants of mothers with diabetes Am J Med Genet
25. Kuwano, A.; Ledbetter, S.A.; Dobyns, W.B.; Emanuel, B.S.; Ledbetter, D.H. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization Am Y Hum Genet 1991 49 707
26. Altherr, M.R.; Bengtsson, U.; Elder, F.F.B. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation Am J Hum Genet 1991 49 1235
27. Goodship, J.; Curtis, A.; Cross, I. A submicroscopic translocation, t(4; 10), responsible for recurrent WolfHirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation J Med Genet 1992 29 451
28. Emanuel, B.S.; Budarf, M.L.; Sellinger, B.; Goldmuntz, E.; Driscoll, D.A. Detection of microdeletions of 22ql 1.2 with fluorescence in situ hybridization (FISH): diagnosis of DiGeorge syndrome (DGS), velo-cardio-facial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations Am J Hum Genet 1992 51 3
29. Driscoll, D.A.; Budarf, M.L.; Emanuel, B.S. Antenatal diagnosis of DiGeorge syndrome Lancet 1991 10.1016/0140-6736(91)92264-3 338 1390
30. Goldmuntz, E.; Driscoll, D.A.; Emanuel, B.S. Microdeletions of chromosome 22 in patients with conotruncal cardiac defects Am J Cardiol 1992 70 557
31. Goldmuntz, E.; Driscoll, D.; Budarf, M.L. Microdeletions of chromosomal region 22q I1 in patients with congenital conotruncal cardiac defects J Med Genet 1993 10.1136/jmg.30.10.807 30 807