A 22q11.2 Deletion that excludes UFD1L and CDC45l in a patient with conotruncal and craniofacial defects [3]

American Journal of Human Genetics

Volumn 65, Issue 2, 1999, Pages 562-566

  Sulagna, C ^a   Saitta, S C ^a   McGrath, J M ^a   Mensch, H ^a   Shaikh, T H ^a   Zackai, E H ^a   Emanuel, B S ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 22Q; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CONTROLLED STUDY; COSMID; CRANIOFACIAL MALFORMATION; DNA SEQUENCE; GENE LOCUS; GENE SEQUENCE; HUMAN; LETTER; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033362091     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302514     Document Type: Letter

References (24)

1. J Burn J Goodship Congenital heart disease DL Rimoin JM Conner RE Pyeritz AEH Emery Emery and Rimoin's principles and practice of medical genetics Vol 1 1996 Churchill Livingstone New York 767 803
2. L Edelmann RK Pandita BE Morrow Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome Am J Hum Genet 64 1999 1076 1086
3. BS Emanuel ML Budarf PJ Scambler The genetic basis of conotruncal cardiac defects: the chromosome 22q11.2 deletion R Harvey N Rosenthal Heart development 1999 Academic Press San Diego 463 478
4. BS Emanuel ML Budarf T Shaikh D Driscoll Blocks of duplicated sequence define the endpoints of DGS/VCFS 22q11.2 deletions Am J Hum Genet Suppl 63 1998 A11
5. Emanuel BS, Goldmuntz E, Budarf ML, Shaikh T, McGrath J, McDonald-McGinn D, Zackai EH, et al (1999b) Blocks of duplicated sequence define the endpoints of DGS/VCFS 22q11.2 deletions. In: Clark E, Nakazawa M, Takao A (eds) Etiology and morphogenesis of congenital heart disease. Futura, Armonk, NY (in press)
6. K Gaudenz E Roessler N Quaderi B Franco G Feldman DL Gasser B Wittwer Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain Am J Hum Genet 63 1998 703 710
7. E Goldmuntz BJ Clark LE Mitchell AF Jawad BF Cuneo L Reed D McDonald-McGinn Frequency of 22q11 deletions in patients with conotruncal defects J Am Coll Cardiol 32 1998 492 498
8. K Kawasaki S Minoshima E Nakato K Shibuya A Shintani JL Schmeits J Wang One-megabase sequence analysis of the human immunoglobulin λ gene locus Genome Res 7 1997 250 261
9. K Kawasaki S Minoshima K Schooler J Kudoh S Asakawa PJ de Jong N Shimizu The organization of the human immunoglobulin λ gene locus Genome Res 5 1995 125 135
10. H Kurahashi T Nakayama Y Osugi E Tsuda M Masuno K Imaizumi T Kamiya Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region Am J Hum Genet 58 1996 1377 1381
11. A Levy S Demczuk A Aurias D Depetris MG Mattei N Philip Interstitial 22q11 deletions excluding the ADU breakpoint in a patient with DGS Hum Mol Genet 4 1995 2417 2418
12. DM McDonald-McGinn DA Driscoll L Bason K Christensen D Lynch K Sullivan D Canning Autosomal dominant “Opitz” GBBB syndrome due to a 22q11.2 deletion Am J Med Genet 59 1995 103 113
13. SD McLean HM Saal NB Spinner BS Emanuel DA Driscoll Velo-cardio-facial syndrome: intrafamilial variability of the phenotype Am J Dis Child 147 1993 1212 1216
14. McQuade L, Christodoulou J, Budarf ML, Sachdev R, Wilson M, Emanuel B, Colley A. A further case of a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR): the involvement of the TBX1 and COMT genes in the deletion and the clinical phenotype. Am J Med Genet (in press)
15. H O'Donnell C McKeown C Gould B Morrow P Scambler Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region Am J Hum Genet 60 1997 1544 1548
16. JM Opitz G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or “Opitz-Frias” or “Opitz-G” syndrome)—perspective in 1987 and bibliography Am J Med Genet 28 1987 275 285
17. JM Opitz RL Summitt DW Smith The BBB syndrome: familial telecanthus with associated congenital anomalies Birth Defects 5 1969 86 94
18. NA Quaderi S Schweiger K Gaudenz B Franco EI Rugarli W Berger GJ Feldman Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 Nat Genet 17 1997 285 291
19. A Rauch RA Pfeiffer G Leipold H Singer M Tigges M Hofbeck A novel 22q11.2 microdeletion in DiGeorge syndrome Am J Hum Genet 64 1999 659 667
20. NH Robin GJ Feldman AL Aronson HF Mitchell R Weksberg CO Leonard BK Burton Opitz syndrome is genetically heterogenous, with one locus on Xp22, and a second locus on 22q11.2 Nat Genet 11 1995 459 461
21. NH Robin JM Opitz M Muenke Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature Am J Med Genet 62 1996 305 317
22. TH Shaikh S Gottlieb B Sellinger F Chen BA Roe RJ Oakey BS Emanuel Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development Mamm Genome 10 1999 322 326
23. H Yamagishi V Garg R Matsuoka T Thomas D Srivastava A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects Science 283 1999 1158 1161
24. JM Opitz JL Frias JE Gutenberger JR Pellett The G syndrome of multiple congenital anomalies Birth Defects 5 1969 95 101