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Human Genetics

, Volume 65, Issue 4, pp 317–319 | Cite as

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

  • F. Greenberg
  • W. E. Crowder
  • Velma Paschall
  • J. Colon-Linares
  • B. Lubianski
  • D. H. Ledbetter
Original Investigations

Summary

Partial monosomy of 22q due to an unbalanced 4;22 translocation was seen in a 2-month-old male with Type I truncus arterious, dysmorphic features, and T-cell abnormalities. The family history revealed a previous sib with Type I truncus arteriosus, thymic aplasia, and parathyroid hypoplasia noted on postmortem examination, consistent with DiGeorge syndrome. Evaluation of the asymptomatic mother of these two patients revealed partial T-cell deficiency and the same unbalanced translocation with deletion of proximal 22qll. These findings provide further evidence that some cases of complete or partial DiGeorge syndrome are associated with monosomy of the proximal long arm of chromosome 22, and they may explain many, if not all, familial cases of the syndrome.

Keywords

Internal Medicine Family History Metabolic Disease Postmortem Examination Familial Case 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • F. Greenberg
    • 1
    • 2
  • W. E. Crowder
    • 1
    • 2
  • Velma Paschall
    • 1
    • 2
  • J. Colon-Linares
    • 1
    • 2
  • B. Lubianski
    • 1
    • 2
  • D. H. Ledbetter
    • 1
    • 2
  1. 1.Department of PediatricsBaylor College of MedicineHoustonUSA
  2. 2.Department of MedicineBaylor College of MedicineHoustonUSA

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