The association of the DiGeorge anomalad with partial monosomy of chromosome 22

Richard I. Kelley, Elaine H. Zackai, Beverly S. Emanuel, Mildred Kistenmacher, Frank Greenberg, Hope H. Punnett

Research output: Contribution to journalArticlepeer-review

Abstract

We have seen three unrelated patients with the DiGeorge anomalad who also had the same deletion of chromosome 22 (pter→qll). In each, the remaining long arm material (qll→qter) was translocated to a different autosome. Our patients and a review of the literature, including a recent report of a family having four infants with the DiGeorge anomalad and the same deletion of chromosome 22 (de la Chapelle et al: Hum Genet 57:253, 1981), make a strong argument for at least some cases of the DiGeorge anomalad arising from a deletion of the pericentromeric region of chromosome 22.

Original languageEnglish (US)
Pages (from-to)197-200
Number of pages4
JournalThe Journal of pediatrics
Volume101
Issue number2
DOIs
StatePublished - Aug 1982

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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