 |
22q11 Deletion Syndrome home22q11 Deletion Syndrome - Suggested ReferencesLast Update 10-03-03 Alla P, et al. Epilepsy in an adult with chromosome 22q11 microdeletion. Rev Neurol (Paris) Nov; 155(11): 967-70 (1999) (article in French) Arnold, P, et al. Velocardiofacial syndrome: implications of microdeletion 22q11 for schizophrenia and mood disorders. Am J of Med Gen 105: 345-362 (2001) Baldini A. DiGeorge syndrome: complex pathogenesis? Maybe, maybe not. Mol Med Today Jan; 6(1): 12 (2000) Barr CL, et al. Linkage study of catechol-Omethyltransferase and attention deficit hyperactivity disorder. Am J Med Genet Dec 15; 88(6): 710-3 (1999) Bassett AS, et al. 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet 81: 328-37 (1998) Bearden, C, et al. The neurocognitive phenotype of the 22q11.2 deletions syndrome: selective deficit in visual-spatial memory. J Clin Exp Neurophsy 23: 447-464 (2001) Bingham PM, et al. Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. Am J Med Genet 74: 538-43 (1997) Borgmann S, et al. A search for chromosome 22q11.2 deletions in a series of 176 consecutively catherized patients with congenital heart disease: no evidence for deletions in non-syndromic patients. Eur J Pediatr Dec; 158(12): 958-63 (1999) Budarf ML, et al Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 4:763-6 (1995) Burn J, et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 30:822-4 (1993) Carey AH, et al. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 51:964-70 (1992) Cayler GG. Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child 44:69-75 (1969) Chessa M, et al. Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetrology of Fallot and pulmonary atresia-ventricular septal defect. Heart. Feb; 79(2): 186-190 (1998) Chow EW, et al. Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics. Am J Med Genet 54:107-12 (1994) Chow LY, et al. Velo-cardio-facial syndrome, schizophrenia and deletion at Chromosome 22q11. J. Intellect. Disabil. Res Apr; 42(Pt2): 184-188 (1998) Chow LY, et al. Schizophrenia and hypocalcaemia: variable phenotype of deletion at chromosome 22q11. Aust N Z J Psych. Oct;33(5):760-2 (1999). De Chaldee M, et al. Linkage disequilibrium on the COMT gene in French schizophrenics and controls. Am J Med Genet Oct 15; 88(5): 452-7 (1999). de la Chapelle A, et al. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 57:253-6 (1981) Denckla M. Overview: specific behavioral/cognitive phenotypes of genetic disorders. Men Retard Dev Dis 6: 81-83. (2000) Desmaze C, et al. Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. Hum Genet 90:663-5 (1993) Devriendt K, et al. The annual incidence of DiGeorge/velocardiofacial syndrome J Med Genet 35:789-90 (1998) [letter] Devriendt K, et al. Renal and urological tract malformations caused by a 22q11 deletion. J Med Genet 33:349 (1996) Devriendt, K, et al. Deletion in chromosome region 22q11 in a child with CHARGE association. Clin Gen May; 53(5): 408-410 (1998) Digilio MC, et al. Microdeletion 22q11 and oesophageal atresia. J Med Gen Feb; 36(2): 137-9 (1999) Driscoll DA, et al. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 50:924-33 (1992) Driscoll DA, et al. Familial 22q11 deletions: phenotypic variability and determination of deletion boundaries by FISH. Am J Hum Genet 57:92 (1995) (abstr) Driscoll DA, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet 30:813-7 (1993) Driscoll DA, et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 44:261-8 (1992) Dykens E. Measuring behavioral phenotypes: provocations from the “new genetics”. Am J Men Retard 99: 522-532 (1995) Dykens E, et al. Treatment issues in genetic mental retardation syndromes. Prof Psych: Res and Prac 28: 263-270( 1997) Dykens E, et al. Research in mental retardation: toward an etiologic approach. J Child Psych and Psych 42: 49-71 (2001) Eicher PS, et al. Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. J Pediatr 137:158-64 (2000) Eliez D, et al. Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study. Arch Gen Psych 58: 64-68 (2001) Emanuel BS, et al. Blocks of duplicated sequence define the endpoints of DGS/VCFS 22q11 deletions. Am J Hum Genet 63:A11 (1998) (abstr) Feinstein, C et al. The velocardiofacial syndrome in psychiatry. Curr Opin Psych 13: 485-490 (2000) Feinstein C, et al. Psychiatric disorders and behavioral problems in children with Velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenic risk. Bio Psych 51: 312-318 (2002) Fideler D. Behavioral phenotypes and special education: a parent report of educational issues for children with Down syndrome, Prader-Willis syndrome, and Williams syndrome. J Spec Ed (2002) Flint J, et al. Behavioral phenotypes. In: Child and Adolescent Psychiatry. Rutter M, etal. (eds) Oxford: Blackwell Scientific (1994) Fryburg J S, et al. Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am J Med Genet 62:274-5 (1996) Galili N. et al. Gscl, a gene within the minimal DiGeorge critical region, is expressed in primordial germ cells and the developing pons. Dev Dyn May; 212(1): 86-93 (1998) Garabedian M. Hypocalemia and chromosome 22q11 microdeletion. Genet Couns 10(4):389-94 (1999) Gerdes M., et al. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Gen 85 (2): 127-133 (1999) Gerdes M, et al. Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion. Gen Med 3: 40-44 (2001) Giannotti A, et al. Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet 53:303-4 (1994) [letter] Glaser B, et al. Language skills in children with Velocardiofacial syndrome (deletion 22q11.2). J Pediatr 140-753-758 (2002) Golding-Kushner, K., et al. Velo-cardio-facial syndrome: Language and psychological profiles. J Craniofacial Gen 5, 259-266 (1985) Goldmuntz E, et al. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 30:807-12 (1993) Gripp KW, at al. Nasal dimple as part of the 22q11.2 deletion syndrome. Am J Med Genet 69:290-2 (1997) Guion-Almeida ML, et al. CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients. Am J Med Genet 43:918-28 (1992) Hodapp R, et al. Special education and genetics: connections for the 21st century. J Spec Ed 33: 130-137 (1999) Johnson MC, et al. Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiol 76:66-9 (1995) Keenan GF, et al. Arthritis associated with deletion of 22q11.2: more common than previously suspected. Am J Med Genet 71:488 (1997) [letter; comment] Kelley RI, et al. The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr 101:197-200 (1982) Kimber, WL, et al. Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse. Hum Mol Genet Nov 8(12):2229-37 (1999) Kirov G, et al. Low activity allele of catechol-O-methyltransferase gene associated with rapid cycling bipolar disorder. Mol Pysch July 3(4): 342-245 (1998) Kok L, et al. Velocardiofacial syndrome: learning difficulties and intervention. J Med Gen 32: 612-618 (1995) Korf B. Neurofibromatosist type one: a guide for educators. New York, NY: National Neurofibromatosis Foundation, Inc. (2000) Krantz ID, et al. Alagille syndrome. J Med Genet 34:152-7 (1997) Kurahashi H, et al. Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region. Am J Hum Genet 58:1377-81 (1996) LaCassie Y, et al. Letter to the editor. Opitz GBBB syndrome and the 22q11 deletion syndrome. Am J Med Genet 62:318 (1996) Levin SE, et al. Hypoplasia or absence of the depressor anguli oris muscle and congenital abnormalities, with special reference to the cardiofacial syndrome. S Afr Med J 61:227-31 (1982) Levine K. Williams syndrome: information for teachers. Clawson, MI: The Williams Syndrome Assocation (1994) Levine K, et al. Children with Prader-Willis syndrome: information for school staff. Roselyn Heights, NY: Visible Ink. (1993) Levy A, et al. Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum Mol Genet 4:2417-9 (1995) Lichtner P, et al. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J Med Genet Jan; 37(1): 33-7 (2000) [Review] Lindsay E. Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev: Gen 2: 858-868 (2001) Liu H, et al. Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. PNAS 99:3717-3722 (2002) Liu, H et al. Genetic variation in the 22q11 locus and susceptibility to schizophrenia. PNAS 99(26): 16859-16864 (2002) Loder N. Unfinished sequence—the catch on 22. Nature Dec 2; 402(6761): 448 (1999) Lynch DR, et al. Cerebellar atrophy in a patient with velocardiofacial syndrome. J Med Genet 32:561-3 (1995) [see comments] MacDonald MR, et al. Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies. Am J Med Genet 46:706-11 (1993) Matsuoka R, et al. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet 53:285-9 (1994) McDonald-McGinn DM, et al. Autosomal dominant “Opitz” GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 59:103-13 (1995) [see comments] McDonald-McGinn DM, et al The 22q11 deletion in African American patients: an underdiagnosed population. Am J Hum Genet 59:90 (1996) (abstr) McDonald-McGinn DM, et al. Faces of sunshine: the 22q11.2 deletion: a handbook for parents and professionals. (2000) McDonald-McGinn DM, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11-24 (1999) McDonald-McGinn DM, et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1:99-108 (1997) McDonald-McGinn DM, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3:23-9 (2001) McDonald-McGinn DM, et al. What’s in a name? The 22q11.2 deletion. Am J Med Genet 72:247-9 (1997) [letter; comment] McQuade L, et al. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet 86:27-33 (1999) Megonigal, MD, et al. t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes. Proc Natl Acad Sci USA May 26; 95(11): 6413-6418 (1998) Ming JE, et al. Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet 72:210-5 (1997) Momma K, et al. Aortic arch anomalies associated with chromosome 22q11 deletion. Ped Car Mar-Apr; 20(2): 97-102 (1999) Moss, E., et al. Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Ped 134, 2, 193-198. (1999) Moss E, et al Characteristic cognitive profile in patients with a 22q11 deletion: verbal IQ exceeds nonverbal IQ. Am J Hum Genet 57:42 (1995) (abstr) Motzkin B, et al. Variable phenotypes in Velocardiofacial syndrome with chromosome deletion. J Ped 123: 406-410 (1993) Murphy K. Schizophrenia and Velocardiofacial syndrome. Lancet 359: 426-430 (2002) Murphy KC et al. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psych Oct; 56(10): 940-945 (1999) Neri G, et al. A girl with G syndrome and agenesis of the corpus callosum. Am J Med Genet 28:287-91 (1987) Nickel RE, et al. Neural tube defects and deletions of 22q11. Am J Med Genet 66:25-7 (1996) Nickel RE, et al. Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region. Eur J Pediatr Surg 3 Suppl 1:27-8 (1993) Niklasson L, et al. Neuropsychiatric disorders in the 22q11 deletion syndrome. Gen Med 3:79-84 (2001) Novelli G, et al. Individual haploinsufficient loci and the complex phenotype DiGeorge syndrome. Mol Med Today Jan;6(1);10-1 (2000) Novelli G et al. UFD1L and CDC45L: a role in Di George syndrome and related phenotypes? Trends Genet Jul;15(7):251-4 (1999) O Donnell H, et al. Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region. Am J Hum Genet 60:1544-8 (1997) [letter] Papolos, DF, et al. Ultra-ultra rapid cycling bipolar disorder is associated with the low activity catecholamine-O-methyltransferase allele. Mol. Psych. July; 3(4): 346-349 (1998) Papolos D, et al. Bipolar disorder in patients diagnosed with Velocardiofacial syndrome. Am J Psych 15: 1541-1547 (1996) Pizzuti A, et al. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet 6:259-65 (1997) Prinzie P, et al. Personality profiles of youngsters with Velocardiofacial syndrome. Gen Couns 13: 265-280 (2002) Ravassard, P, et al. ZNF74, a gene deleted in Di George syndrome , is expressed in human neural crestderived tissues and foregut endoderm epithelia. Genomics Nov 15;52(1):82-5 (1999) Rodriguez-Criado G, et al. Familial deletion of 22q11.2. Genet Couns 10(3):325-7(1999) Rommel N, et al. Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. Gen Couns 10: 71-78 (1999) Ryan AK, et al Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798-804 (1997) Sanklecha M, et al. Asymmetric crying facies: the cardiofacial syndrome. J Postgrad Med 38:147-50 (1992) Scambler PJ, et al. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 10:201-6 (1991) Scherer NJ, et al. To sign or not to sign: pro. VCFSEF Newsletter, VCFS Educational Foundation; Syracuse, NY: 1998. Scherer, NJ, et al. Early speech and language development in children with Velocardiofacial syndrome. Am J Med Gen 88, 714-723 (1999) Scherer NJ, et al. Profiles of communication disorders in children with velocardiofacial syndrome: comparison to children with Down syndrome. Genet Med 3:72-78 (2001) Sergi C, et al. CATCH 22 syndrome : report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11. Patholgica Jun 91(3):166-72 (1999) Shprintzen RJ, et al. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet 42:141-2 (1992) [letter] Shprintzen R. Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Men Retar Dev Dis 6: 142-147 (2000) Shprintzen, R., et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velocardio-facial syndrome. Cleft Palate Journal 15, 56-62 (1978) Silengo MC, et al. Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. Clin Genet 30:481-4 (1986) Smith CA, et al. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol 5:415-7 (1998) Sobin, C et al. Early, non-psychotic deviant behavior in schizophrenia: a possible endophenotypic marker for genetic studies. Psych Res 101: 101-113 (2001) Sobin, C et al. A comparison study of early non-psychotic deviant behavior in Afrikaner and US patients with schizophrenia or schizoaffective disorder. Psych Res. 117: 113-125 (2003) Solot C, et al. Communication disorders in the 2211.2 microdeletion syndrome. J Comm Disord 33: 187-204 (2000) Sperandeo, MP, et al. The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome. Genomics April 15; 49(2): 230-236 (1998) Srivastava D. DiGeorge syndrome: an enigma in mice and men. Mol Med Today Jan;6(1):13-4 (2000) Stoel-Gammon C. Prespeech and early speech development of two late talkers. First Lang. 9:207-224 (1989) Sullivan KE, et al. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol 86:141-6 (1998) Sullivan KE, et al. 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 (1999) Sullivan KE, et al. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum 40:430-6 (1997) Swillen A , et al. Intelligence and psychosocial adjustment in Velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Gen 34: 453-458 (1997) Swillen A. et al. The behavioral phenotype in Velocardiofacial syndrome: from infancy to adolescence. Gen Couns 10: 79-88 (1999) Swillen A, et al. Chromosome 22q11 deletion syndrome: update and review of clinical features, cognitive – behavioral spectrum and psychiatric complications. Am J Med Gen 97: 128-135 (2000) Swillen, A.,et al. Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: Behavior during primary school-age. Genetic Couns 12(4): 309-317 (2001) Thomas JA, et al. Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila) 36:253-66(1997) Tobias, ES, et al Towards earlier diagnosis of 22q11 deletions. Arch Dis Child Dec 81(6): 513-4 (1999) Tsai CH, et al. Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype. Am J Med Gen Feb 12; 82(4): 336-9 (1999) Wakamiya M, et al. Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes. Hum Mol Gen Nov; 7(12): 1835-40 (1998) Wang PP, et al. Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome). J Dev Behav Pediatr 19:342-5 (1998) Wang P, et al. Research on behavioral phenotypes: Velocardiofacial syndrome. Dev Med Child Neur 42: 422-427 (2000) Weinzimer SA, et al. Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype. Pediatrics 101:929-32 (1998) Wilson DI, et al. DiGeorge syndrome: part of CATCH 22. J Med Genet 30:852-6 (1993) Wilson DI, et al A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet 51:957-63 (1992) Wilson DI, et al. Minimum prevalence of chromosome 22q11 deletions. Am J Hum Genet 55:A169 (1994 (abstr) Wulfsberg EA, et al. What’s in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes. Am J Med Genet 65:317-9 (1996) [see comments] Yamagishi H, et al. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283:1158-61 (1999) Yan W, et al. Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and “multi-dimensionally impaired”. Am J Med Genet 81:41-3 (1998) York A, et al. Fragile-X syndrome, Down’s syndrome and autism: awareness and knowledge amongst special educators. J Intell Dis Res 43: 314-324 (1999) Zackai EH, et al Dysphagia in patients with a 22q11 deletion: unusual pattern found on modified barium swallow. Am J Hum Genet 59A:600 (1996) Zori, RT, et al. Prevalence of 22q11 region deletions in patients with velopharngeal insuffiency. Am J Med Genet April 28; 77(1): 8-11 (1998) Last Update 10-03-03 |