An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter→20q11 and monosomy 22pter→22q11 was found in four individuals belonging to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.
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Benirschke K, Lowry RB, Opitz JM, Schwarzacher HG, Spranger JW (1979) Developmental terms—some proposals: First report of an international working group. Am J Med Genet 2:297–302
Blank CE, Colver DCB, Potter AM, McHugh J, Lorger J (1975) Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9. Clin Genet 7:261–273
Bühler E, Bühler UK, Stalder GR, Jani L, Jurik LP (1980) Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr 133: 163–166
Canki N, Dutrillaux B, Tivadar I (1979) Dystrophie musculaire de Duchenne chez une petite fille porteuse d'une translocation t(X;3) (p21;q13) de novo. Ann Génét (Paris) 22:35–39
Cleveland WW, Fogel BJ, Brown WT, Kay HEM (1968) Foetal thymic transplant in a case of DiGeorge's syndrome. Lancet 2:1211–1214
Conley ME, Beckwith JB, Mancer JFK, Tenckhoff L (1979) The spectrum of the DiGeorge syndrome. J Pediatr 94:883–890
DiCicco F, Steele MW, Pan S, Park SC (1973) Monosomy of chromosome No. 22: A case report. J Pediatr 83:836–838
DiGeorge AM (1965) Discussion of paper by Cooper DM, Peterson RDA, Good RA. A new concept of the cellular basis of immunity. J Pediatr 67:907–908
Ferguson-Smith MA, Westerveld A (1979) Report of the commitee on the genetic constitution of chromosomes 13, 14, 15, 16, 17, 18, 19, 20, 21, and 22. Cytogenet Cell Genet 25:59–73
Francke U (1977) Abnormalities of chromosomes 11 and 20. In: Yunis JJ (ed) New chromosomal syndromes. Academic Press, New York San Francisco London, p 245
Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ (1972) Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet 2:1067–1069
Lindenbaum RH, Clarke G, Patel C, Moncrieff M, Hughes JT (1979) Muscular dystrophy in an X;1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet 16: 389–393
Lischner HV (1972) DiGeorge syndrome(s). J Pediatr 81:1042–1044
Palmer CG, Schwart S, Hodes ME (1980) Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter. Clin Genet 17:418–422
Raatikka M, Rapola J, Tuuteri L, Louhimo I, Savilahti E (1981) Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus. Pediatrics 67:173–175
Riccardi VM, Sujanski E, Smith AC, Francke U (1978) Chromosomal imbalance in the aniridia-Wilm's tumor association: 11p interstitial deletion. Pediatrics 61:604–610
Rosenthal IM, Bocian M, Krmpotic E (1972) Multiple anomalies including thymic aplasia associated with monosomy 22. Pediatr Res 6:358
Shepard MK, Linman SK, Cavazos A (1976) Familial thymic aplasia with intrauterine growth retardation and fetal death: A new syndrome or a variant of DiGeorge syndrome. Birth Defects 12:123–125
Steele RW, Limas C, Thurman GB, Schuelein M, Bauer H, Bellanti JA (1972) Familial thymic aplasia. Attempted reconstitution with fetal thymus in a Millipore diffusion chamber. N Engl J Med 287: 787–791
Tiepolo L, Zuffardi O, Fraccaro M, di Natale D, Gargantini L, Müller CR, Ropers HH (1980) Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet 54:205–206
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de la Chapelle, A., Herva, R., Koivisto, M. et al. A deletion in chromosome 22 can cause digeorge syndrome. Hum Genet 57, 253–256 (1981). https://doi.org/10.1007/BF00278938
- Internal Medicine
- Metabolic Disease
- Chromosomal Rearrangement
- Digeorge Syndrome
- Band 22q11