DiGeorge syndrome: part of CATCH 22.

D I Wilson, J Burn, P Scambler, J Goodship

Division of Human Genetics, University of Newcastle upon Tyne, UK.

DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.

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• Ashraf, A., McCormick, K. (2004). Index of Suspicion In the Nursery. NeoReviews 5: e356-e359 [Full Text]  
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• Vermot, J., Niederreither, K., Garnier, J.-M., Chambon, P., Dolle, P. (2003). Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Proc. Natl. Acad. Sci. USA 100: 1763-1768 [Abstract] [Full Text]  
• Theodoropoulos, D. S. (2003). Immune Deficiency in CHARGE Association. Clin Med Res 1: 43-48 [Abstract] [Full Text]  
• Maharasingam, M, Ostman-Smith, I, Pike, M G (2003). A cohort study of neurodevelopmental outcome in children with DiGeorge syndrome following cardiac surgery. Arch. Dis. Child. 88: 61-64 [Abstract] [Full Text]  
• Morrison, D A, FitzPatrick, D R, Fleck, B W (2002). Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22). Br J Ophthalmol 86: 1316-1316 [Full Text]  
• Voigt, R, Maier-Weidmann, M, Lange, P E, Haaf, T (2002). Chromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects. J. Med. Genet. 39: e16-16 [Full Text]  
• Eiris Punal, J., Siebert, M. F., Angueira, F. B., Castro-Gago, M. (2001). Three New Patients With Congenital Unilateral Facial Nerve Palsy due to Chromosome 22q11 Deletion. J Child Neurol 16: 450-452 [Abstract]  
• Ausoni, S., Sartore, S. (2001). Cell Lineages and Tissue Boundaries in Cardiac Arterial and Venous Poles : Developmental Patterns, Animal Models, and Implications for Congenital Vascular Diseases. Arterioscler. Thromb. Vasc. Bio. 21: 312-320 [Abstract] [Full Text]  
• Mina, M. (2001). Regulation of Mandibular Growth and Morphogenesis. CROBM 12: 276-300 [Abstract] [Full Text]  
• Cobourne, M. T. (2000). Construction for the Modern Head: current concepts in craniofacial development. J. Orthod. 27: 307-314 [Abstract] [Full Text]  
• Ji, Y., Eichler, E. E., Schwartz, S., Nicholls, R. D. (2000). Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders. Genome Res 10: 597-610 [Abstract] [Full Text]  
• Sullivan, K. E., McDonald-McGinn, D., Driscoll, D. A., Emanuel, B. S., Zackai, E. H., Jawad, A. F. (1999). Longitudinal Analysis of Lymphocyte Function and Numbers in the First Year of Life in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome). CVI 6: 906-911 [Abstract] [Full Text]  
• Burn, J. (1999). Closing time for CATCH22. J. Med. Genet. 36: 737-738 [Full Text]  
• Lu, J.-H., Chung, M.-Y., Hwang, B., Chien, H.-P. (1999). Prevalence and Parental Origin in Tetralogy of Fallot Associated With Chromosome 22q11 Microdeletion. Pediatrics 104: 87-90 [Abstract] [Full Text]  
• Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T., Srivastava, D. (1999). A Molecular Pathway Revealing a Genetic Basis for Human Cardiac and Craniofacial Defects. Science 283: 1158-1161 [Abstract] [Full Text]  
• Farrell, M. J., Stadt, H., Wallis, K. T., Scambler, P., Hixon, R. L., Wolfe, R., Leatherbury, L., Kirby, M. L. (1999). HIRA, a DiGeorge Syndrome Candidate Gene, Is Required for Cardiac Outflow Tract Septation. Circ. Res. 84: 127-135 [Abstract] [Full Text]  
• Ikonomidis, John. S., Robbins, R. C. (1999). Cervical aortic arch with pseudocoarctation: presentation with spontaneous rupture. Ann. Thorac. Surg. 67: 248-250 [Abstract] [Full Text]  
• Cook, D. L., Gerber, A. N., Tapscott, S. J. (1998). Modeling stochastic gene expression: Implications for haploinsufficiency. Proc. Natl. Acad. Sci. USA 95: 15641-15646 [Abstract] [Full Text]  
• Anderson, R. H, Webb, S., Brown, N. A (1998). The mouse with trisomy 16 as a model of human hearts with common atrioventricular junction. Cardiovasc Res 39: 155-164 [Abstract] [Full Text]  
• McCandless, S. E., Scott, J. A., Robin, N. H. (1998). Deletion 22q11: A Newly Recognized Cause of Behavioral and Psychiatric Disorders. Arch Pediatr Adolesc Med 152: 481-484 [Abstract] [Full Text]  
• Hofbeck, M., Rauch, A., Buheitel, G., Leipold, G., von der Emde, J., Pfeiffer, R., Singer, H. (1998). Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Heart 79: 180-185 [Abstract] [Full Text]  
• Chessa, M, Butera, G, Bonhoeffer, P, Iserin, L, Kachaner, J, Lyonnet, S, Munnich, A, Sidi, D, Bonnet, D (1998). Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect. Heart 79: 186-190 [Abstract] [Full Text]  
• Thomas, T, Kurihara, H, Yamagishi, H, Kurihara, Y, Yazaki, Y, Olson, E., Srivastava, D (1998). A signaling cascade involving endothelin-1, dHAND and msx1 regulates development of neural-crest-derived branchial arch mesenchyme. Development 125: 3005-3014 [Abstract]  
• Clouthier, D., Hosoda, K, Richardson, J., Williams, S., Yanagisawa, H, Kuwaki, T, Kumada, M, Hammer, R., Yanagisawa, M (1998). Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. Development 125: 813-824 [Abstract]  
• Yanagisawa, H, Yanagisawa, M, Kapur, R., Richardson, J., Williams, S., Clouthier, D., de Wit, D, Emoto, N, Hammer, R. (1998). Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development 125: 825-836 [Abstract]  
• Lutterman, J., Scott, M., Nass, R., Geva, T. (1998). Moyamoya Syndrome Associated With Congenital Heart Disease. Pediatrics 101: 57-60 [Abstract] [Full Text]  
• Sykes, K. S., Bachrach, L. K., Siegel-Bartelt, J., Ipp, M., Kooh, S. W., Cytrynbaum, C. (1997). Velocardiofacial Syndrome Presenting as Hypocalcemia in Early Adolescence. Arch Pediatr Adolesc Med 151: 745-747 [Abstract]  
• Thomas, J. A., Graham, J. M. Jr. (1997). Chromosome 22q1l Deletion Syndrome: An Update and Review for the Primary Pediatrician. CLIN PEDIATR 36: 253-266 [Abstract]  
• Iida, K, Koseki, H, Kakinuma, H, Kato, N, Mizutani-Koseki, Y, Ohuchi, H, Yoshioka, H, Noji, S, Kawamura, K, Kataoka, Y, Ueno, F, Taniguchi, M, Yoshida, N, Sugiyama, T, Miura, N (1997). Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development 124: 4627-4638 [Abstract]  
• Takihara, Y, Tomotsune, D, Shirai, M, Katoh-Fukui, Y, Nishii, K, Motaleb, M., Nomura, M, Tsuchiya, R, Fujita, Y, Shibata, Y, Higashinakagawa, T, Shimada, K (1997). Targeted disruption of the mouse homologue of the Drosophila polyhomeotic gene leads to altered anteroposterior patterning and neural crest defects. Development 124: 3673-3682 [Abstract]  
• DIGILIO, M C, MARINO, B, GIANNOTTI, A, DALLAPICCOLA, B (1997). Chromosome 22q11 microdeletion and isolated conotruncal heart defects. Arch. Dis. Child. 76: 79a-79 [Full Text]  
• Grondin, B., Bazinet, M., Aubry, M. (1996). The KRAB Zinc Finger Gene ZNF74 Encodes an RNA-binding Protein Tightly Associated with the Nuclear Matrix. J. Biol. Chem. 271: 15458-15467 [Abstract] [Full Text]  
• Cuneo, B. F., Langman, C. B., Ilbawi, M. N., Ramakrishnan, V., Cutilletta, A., Driscoll, D. A. (1996). Latent Hypoparathyroidism in Children With Conotruncal Cardiac Defects. Circulation 93: 1702-1708 [Abstract] [Full Text]  
• Lorain, S, Demczuk, S, Lamour, V, Toth, S, Aurias, A, Roe, B A, Lipinski, M (1996). Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22.. Genome Res 6: 43-50 [Abstract]  
• Johnson, M. C., Watson, M. S., Strauss, A. W., Spray, T. L. (1995). Anomalous Origin of the Right Pulmonary Artery From the Aorta and CATCH 22 Syndrome. Ann. Thorac. Surg. 60: 681-682 [Abstract] [Full Text]  
• Payne, R. M., Johnson, M. C., Grant, J. W., Strauss, A. W. (1995). Toward a Molecular Understanding of Congenital Heart Disease. Circulation 91: 494-504 [Abstract] [Full Text]