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

doi:10.1016/S0022-3476(82)80116-9

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 journal › Article › peer-review

121 Scopus citations

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 language	English (US)
Pages (from-to)	197-200
Number of pages	4
Journal	The Journal of pediatrics
Volume	101
Issue number	2
DOIs	https://doi.org/10.1016/S0022-3476(82)80116-9
State	Published - Aug 1982
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(82)80116-9

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title = "The association of the DiGeorge anomalad with partial monosomy of chromosome 22",

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.",

author = "Kelley, {Richard I.} and Zackai, {Elaine H.} and Emanuel, {Beverly S.} and Mildred Kistenmacher and Frank Greenberg and Punnett, {Hope H.}",

note = "Funding Information: From the Clinical Genetics Center, Children's{"} Hospital of Philadelphia, the Departments of Pediatrics and Laboratories, St. Christopher's Hospital for Children, attd the Department of Pediatrics, Temple University School of Medicine. Supported in part by National Institutes of Health Grants GM07511-05, GM20138-03, CA19834, and RR 75. *Reprint address: Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.",

year = "1982",

month = aug,

doi = "10.1016/S0022-3476(82)80116-9",

language = "English (US)",

volume = "101",

pages = "197--200",

journal = "The Journal of pediatrics",

issn = "0022-3476",

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T1 - The association of the DiGeorge anomalad with partial monosomy of chromosome 22

AU - Kelley, Richard I.

AU - Zackai, Elaine H.

AU - Emanuel, Beverly S.

AU - Kistenmacher, Mildred

AU - Greenberg, Frank

AU - Punnett, Hope H.

N1 - Funding Information: From the Clinical Genetics Center, Children's" Hospital of Philadelphia, the Departments of Pediatrics and Laboratories, St. Christopher's Hospital for Children, attd the Department of Pediatrics, Temple University School of Medicine. Supported in part by National Institutes of Health Grants GM07511-05, GM20138-03, CA19834, and RR 75. *Reprint address: Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.

PY - 1982/8

Y1 - 1982/8

N2 - 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.

AB - 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.

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

Abstract

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