22q11 deletions and cardiac disease

Progress in Pediatric Cardiology - Tập 6 - Trang 19-28 - 1996
Mark B. Lewin1,2, Elizabeth A. Lindsay1, Antonio Baldini1
1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room T936 Houston, TX 77030, USA
2Section of Pediatric Cardiology, Texas Children's Hospital, Houston, TX, USA

Tài liệu tham khảo

Nora, 1993, Causes of CHD: old and new modes, mechanisms and models, Am Heart J, 125, 1409, 10.1016/0002-8703(93)91014-6 Demczuk, 1994, Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization, Ann Genet, 37, 60 Driscoll, 1992, A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11, Am J Hum Genet, 50, 924 Goldmuntz, 1993, Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects, J Med Genet, 30, 807, 10.1136/jmg.30.10.807 Greenberg, 1988, Cytogenetic findings in a prospective series of patients with DiGeorge anomaly, Am J Genet, 43, 605 Levy-Mozziconacci, 1994, Clinical and molecular study of DiGeorge sequence, Eur J Pediatr, 153, 813, 10.1007/BF01972889 Lindsay, 1995, Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions, Am J Med Genet, 57, 514, 10.1002/ajmg.1320570339 Lindsay, 1995, Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region, Am J Med Genet, 56, 191, 10.1002/ajmg.1320560216 Takahashi, 1995, Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study, Eur J Pediatr, 154, 878, 10.1007/BF01957496 Wilson, 1992, Deletions within chromosome 22q11 in familial congenital heart disease, Lancet, 340, 573, 10.1016/0140-6736(92)92107-Q Wilson, 1992, A prospective cytogenetic study of 36 cases of DiGeorge syndrome, Am J Hum Genet, 51, 957 Melchionda, 1995, Transposition of the great arteries associated with deletion of chromosome 22q11, Am J Cardiol, 75, 95, 10.1016/S0002-9149(99)80541-4 Momma, 1996, Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion, J Am Coll Cardiol, 27, 198, 10.1016/0735-1097(95)00415-7 Johnson, 1995, Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome, Am J Cardiol, 76, 66, 10.1016/S0002-9149(99)80803-0 Amati, 1995, 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot, Hum Genet, 95, 479, 10.1007/BF00223856 Pierpont, 1988, Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch, Am J Cardiol, 61, 423, 10.1016/0002-9149(88)90298-6 Augusseau, 1986, DiGeorge syndrome and 22q11 rearrangements, Hum Genet, 74, 206, 10.1007/BF00282098 Scambler, 1992, Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus, Lancet, 339, 1138, 10.1016/0140-6736(92)90734-K Burn, 1993, Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11, J Med Genet, 30, 822, 10.1136/jmg.30.10.822 DiGeorge, 1968, Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. White Plains, New York: March of Dimes-Birth Defects Foundation, Birth Defects, IV, 116 Clark, 1987, Mechanisms in the pathogenesis of congenital cardiac malformations, 3 de la Chapelle, 1981, A deletion in chromosome 22 can cause DiGeorge syndrome, Hum Genet, 57, 253, 10.1007/BF00278938 Scambler, 1991, Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome, Genomics, 10, 201, 10.1016/0888-7543(91)90501-5 Takao, 1980, Etiologic categorization of common congenital heart disease, 253 Momma, 1995, Tetralogy of Fallot associated with chromosome 22q11 deletion, Am J Cardiol, 76, 618, 10.1016/S0002-9149(99)80170-2 Lammer, 1986, The DiGeorge anomaly as a developmental field defect, Am J Med Genet, 2, 113, 10.1002/ajmg.1320250615 Sulik, 1986, Fetal alcohol syndrome and DiGeorge anomaly: Critical ethanol exposure periods for craniofacial malformations as illustrated in an animal model, Am J Med Genet, 2, 97, 10.1002/ajmg.1320250614 Kirby, 1990, Role of neural crest in congenital heart disease, Circulation, 82, 332, 10.1161/01.CIR.82.2.332 Van Mierop, 1972, Pathogenetic mechanisms in congenital cardiovascular malformations, Prog Cardiovasc Dis, 15, 67, 10.1016/0033-0620(72)90005-9 Johnson, 1975, The neural crest in abnormalities of the face and brain, XI, 1 Kirby, 1983, Neural crest cells contribute to normal aortopulmonary septation, Science, 220, 1059, 10.1126/science.6844926 Kirby, 1989, Plasticity and pre-determination of mesencephalic and trunk neural crest transplanted into the region of the cardiac neural crest, Dev Biol, 134, 401, 10.1016/0012-1606(89)90112-7 Brockman, 1989, Alteration of early vascular development after ablation of cranial neural crest, Anatom Rec, 225, 209, 10.1002/ar.1092250306 Levy, 1995, Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome, Hum Mol Genet, 4, 2417, 10.1093/hmg/4.12.2417 Lindsay, 1996, A transcription map in the CATCH22 critical region: Identification, mapping and ordering of four novel transcripts expressed in heart, Genomics, 32, 104, 10.1006/geno.1996.0082 Lindsay, 1993, Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization, Genomics, 17, 403, 10.1006/geno.1993.1339 Foster, 1994, Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene, Nature, 372, 525, 10.1038/372525a0 Wagner, 1994, Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY- related gene SOX9, Cell, 79, 1111, 10.1016/0092-8674(94)90041-8 Halford, 1993, Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial heart disease, Hum Mol Genet, 2, 2099, 10.1093/hmg/2.12.2099 Lamour, 1995, A human homolog of the S. cerevisiae HIR1 and HIR2 transcription repressers cloned from the DiGeorge syndrome critical region, Hum Mol Genet, 4, 791, 10.1093/hmg/4.5.791 Pizzuti, 1996, Human homolog sequences to the Drosophila dishevelled polarity gene are deleted in the DiGeorge syndrome, Am J Hum Genet, 58, 722 Demczuk, 1995, Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity, Hum Mol Genet, 4, 551, 10.1093/hmg/4.4.551 Wadey, 1995, Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome, Hum Mol Genet, 4, 1027, 10.1093/hmg/4.6.1027 Budarf, 1995, Cloning a balanced translocation asociated with DiGeorge syndrome and identification of a disrupted candidate gene, Nature Gene, 10, 269, 10.1038/ng0795-269 Demczuk, 1995, DiGeorge syndrome and related syndromes associated with 22q11.2 deletions: A review, Ann Genet, 38, 59 Rosenthal, 1972, Multiple anomalies including thymic aplasia associated with monosomy 22, Pediatr Res, 6, 358 Kelley, 1982, The association of the DiGeorge anomalad with partial monosomy of chromosome 22, J Pediatr, 101, 197, 10.1016/S0022-3476(82)80116-9 Wilson, 1992, A prospective cytogenetic study of 36 cases of DiGeorge syndrome, Am J Med Genet, 51, 957 Carey, 1992, Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome, Am J Hum Genet, 51, 964 Driscoll, 1993, Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis, J Med Genet, 30, 813, 10.1136/jmg.30.10.813 Ramirez-Solis, 1995, Chromosome engineering in mice, Nature, 378, 720, 10.1038/378720a0