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. 1988 Nov;43(5):605–611.

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

F Greenberg 1, F F Elder 1, P Haffner 1, H Northrup 1, D H Ledbetter 1
PMCID: PMC1715550  PMID: 3189331

Abstract

High-resolution cytogenetics analysis of peripheral blood lymphocytes was done prospectively on 27 of 28 patients with features of DiGeorge anomaly. Twenty-two patients (81%) had normal chromosome studies with no detectable deletion in chromosome 22. Five patients (18%) had demonstrable chromosome abnormalities. Three patients had monosomy 22q11, one due to a 4q;22q translocation, one due to a 20q;22q translocation, and one due to an interstitial deletion of 22q11. One patient had monosomy 10p13, and one patient had monosomy 18q21.33, although the latter had subsequent resolution of T-cell defects. These findings are consistent with the heterogeneity of DiGeorge anomaly but confirm the association with monosomy 22q11 in some cases. However, monosomy 10p13 may also lead to this phenotype. Because of these associated chromosome findings, cytogenetic analyses should be done on patients with suspected DiGeorge anomaly. This is particularly important since many of the abnormalities involving chromosome 22 are translocations that can be familial with a higher recurrence risk. Since only one subtle, interstitial deletion of chromosome 22 was observed, it is not clear whether high-resolution cytogenetic analysis is cost beneficial for all such patients.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Augusseau S., Jouk S., Jalbert P., Prieur M. DiGeorge syndrome and 22q11 rearrangements. Hum Genet. 1986 Oct;74(2):206–206. doi: 10.1007/BF00282098. [DOI] [PubMed] [Google Scholar]
  2. Back E., Stier R., Böhm N., Adlung A., Hameister H. Partial monosomy 22pter leads to q11 in a newborn with the clinical features of trisomy 13 syndrome. Ann Genet. 1980;23(4):244–248. [PubMed] [Google Scholar]
  3. Bowen P., Pabst H., Berry D., Collins-Nakai R., Hoo J. J. Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement. Clin Genet. 1986 Feb;29(2):174–177. doi: 10.1111/j.1399-0004.1986.tb01245.x. [DOI] [PubMed] [Google Scholar]
  4. Bridgman G., Butler L. J. A child trisomic for the distal part of chromosome 14q. Arch Dis Child. 1980 Jun;55(6):474–477. doi: 10.1136/adc.55.6.474. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Conley M. E., Beckwith J. B., Mancer J. F., Tenckhoff L. The spectrum of the DiGeorge syndrome. J Pediatr. 1979 Jun;94(6):883–890. doi: 10.1016/s0022-3476(79)80207-3. [DOI] [PubMed] [Google Scholar]
  6. DeCicco F., Steele M. W., Pan S., Park S. C. Monosomy of chromosome No. 22. A case report. J Pediatr. 1973 Nov;83(5):836–838. doi: 10.1016/s0022-3476(73)80382-8. [DOI] [PubMed] [Google Scholar]
  7. Faed M. J., Robertson J., Beck J. S., Cater J. I., Bose B., Madlom M. M. Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11). J Med Genet. 1987 Apr;24(4):225–227. doi: 10.1136/jmg.24.4.225. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Gencík A., Brönniman U., Tobler R., Auf der Maur P. Partial monosomy of chromosome 10 short arms. J Med Genet. 1983 Apr;20(2):107–111. doi: 10.1136/jmg.20.2.107. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Greenberg F., Crowder W. E., Paschall V., Colon-Linares J., Lubianski B., Ledbetter D. H. Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum Genet. 1984;65(4):317–319. doi: 10.1007/BF00291554. [DOI] [PubMed] [Google Scholar]
  10. Greenberg F., Valdes C., Rosenblatt H. M., Kirkland J. L., Ledbetter D. H. Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome. J Pediatr. 1986 Sep;109(3):489–492. doi: 10.1016/s0022-3476(86)80124-x. [DOI] [PubMed] [Google Scholar]
  11. Hervé J., Warnet J. F., Jeaneau-Bellego E., Portnoi M. F., Taillemitte J. L., Hervé F. Monosomie partielle du bras court d'un chromosome 10, associée à un syndrome de Rieger et à undéficit immunitaire partiel, type Di George. Ann Pediatr (Paris) 1984 Jan;31(1):77–80. [PubMed] [Google Scholar]
  12. Kelley R. I., Zackai E. H., Emanuel B. S., Kistenmacher M., Greenberg F., Punnett H. H. The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr. 1982 Aug;101(2):197–200. doi: 10.1016/s0022-3476(82)80116-9. [DOI] [PubMed] [Google Scholar]
  13. Koenig R., Kessel E., Schoenberger W. Partial monosomy 10p syndrome. Ann Genet. 1985;28(3):173–176. [PubMed] [Google Scholar]
  14. Lammer E. J., Opitz J. M. The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl. 1986;2:113–127. doi: 10.1002/ajmg.1320250615. [DOI] [PubMed] [Google Scholar]
  15. Ledbetter D. H., Mascarello J. T., Riccardi V. M., Harper V. D., Airhart S. D., Strobel R. J. Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. Am J Hum Genet. 1982 Mar;34(2):278–285. [PMC free article] [PubMed] [Google Scholar]
  16. Mallette L. E., Tuma S. N., Berger R. E., Kirkland J. L. Radioimmunoassay for the middle region of human parathyroid hormone using an homologous antiserum with a carboxy-terminal fragment of bovine parathyroid hormone as radioligand. J Clin Endocrinol Metab. 1982 May;54(5):1017–1024. doi: 10.1210/jcem-54-5-1017. [DOI] [PubMed] [Google Scholar]
  17. Schwanitz G., Zerres K. Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome. Ann Genet. 1987;30(2):80–84. [PubMed] [Google Scholar]
  18. Taylor M. J., Josifek K. Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5. Am J Med Genet. 1981;9(1):5–11. doi: 10.1002/ajmg.1320090103. [DOI] [PubMed] [Google Scholar]
  19. Townes P. L., White M. R. Inherited partial trisomy 8q (22 leads to qter). Am J Dis Child. 1978 May;132(5):498–501. doi: 10.1001/archpedi.1978.02120300058012. [DOI] [PubMed] [Google Scholar]
  20. Van den Berghe H., Van Eygen M., Fryns J. P., Tanghe W., Verresen H. Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+. Humangenetik. 1973 May 25;18(3):225–230. doi: 10.1007/BF00290601. [DOI] [PubMed] [Google Scholar]
  21. Yunis J. J. High resolution of human chromosomes. Science. 1976 Mar 26;191(4233):1268–1270. doi: 10.1126/science.1257746. [DOI] [PubMed] [Google Scholar]
  22. de la Chapelle A., Herva R., Koivisto M., Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet. 1981;57(3):253–256. doi: 10.1007/BF00278938. [DOI] [PubMed] [Google Scholar]

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