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 journalArticle

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
JournalJournal of Pediatrics
Volume101
Issue number2
DOIs
StatePublished - 1982
Externally publishedYes

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Chromosomes, Human, Pair 22
Chromosome Deletion
Viverridae

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Kelley, R. I., Zackai, E. H., Emanuel, B. S., Kistenmacher, M., Greenberg, F., & Punnett, H. H. (1982). The association of the DiGeorge anomalad with partial monosomy of chromosome 22. Journal of Pediatrics, 101(2), 197-200. https://doi.org/10.1016/S0022-3476(82)80116-9

The association of the DiGeorge anomalad with partial monosomy of chromosome 22. / Kelley, Richard I.; Zackai, Elaine H.; Emanuel, Beverly S.; Kistenmacher, Mildred; Greenberg, Frank; Punnett, Hope H.

In: Journal of Pediatrics, Vol. 101, No. 2, 1982, p. 197-200.

Research output: Contribution to journalArticle

Kelley, RI, Zackai, EH, Emanuel, BS, Kistenmacher, M, Greenberg, F & Punnett, HH 1982, 'The association of the DiGeorge anomalad with partial monosomy of chromosome 22', Journal of Pediatrics, vol. 101, no. 2, pp. 197-200. https://doi.org/10.1016/S0022-3476(82)80116-9
Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH. The association of the DiGeorge anomalad with partial monosomy of chromosome 22. Journal of Pediatrics. 1982;101(2):197-200. https://doi.org/10.1016/S0022-3476(82)80116-9
Kelley, Richard I. ; Zackai, Elaine H. ; Emanuel, Beverly S. ; Kistenmacher, Mildred ; Greenberg, Frank ; Punnett, Hope H. / The association of the DiGeorge anomalad with partial monosomy of chromosome 22. In: Journal of Pediatrics. 1982 ; Vol. 101, No. 2. pp. 197-200.
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