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Clinical Pediatrics, Vol. 15, No. 7, 601-618 (1976)
DOI: 10.1177/000992287601500706

The Problem of Trisomy 22

A Case Report and a Discussion of the Variant Forms

Hans Zellweger

Department of Pediatrics and the Department of Preventive Medicine and Environmental Health, College of Medicine, University of Iowa, Iowa City, Ia.

Victor Ionasescu

Department of Pediatrics and the Department of Preventive Medicine and Environmental Health, College of Medicine, University of Iowa, Iowa City, Ia.

Jane Simpson

Department of Pediatrics and the Department of Preventive Medicine and Environmental Health, College of Medicine, University of Iowa, Iowa City, Ia.

Leon Burmeister

Department of Pediatrics and the Department of Preventive Medicine and Environmental Health, College of Medicine, University of Iowa, Iowa City, Ia.

A case of trisomy 22 with partial long arm deletion (47, +22 q—) studied by G-banding is presented. The patient, a five-month-old male, showed failure to thrive, delayed psychomotor development, large, low-set ears, mild micrognathia, atrial septal defect, and marked muscular hypotonia. The father's karyotype was normal. The mother's karyotype was 46 XX, but one of the #22 chromosomes showed a deletion of the long arm as seen in the proband's karyotype. A comparison with previously reported cases in the literature indicates a great variability of clinical features of trisomy 22: "classical form," cat eye syndrome, and abortive cases (as this reported case).


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This article has been cited by other articles:


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M. L. Lessick, K. Szego, and P. W. K. Wong
Trisomy 22 Mosaicism with Normal Blood Chromosomes: Case Report with Literature Review
Clinical Pediatrics, September 1, 1988; 27(9): 451 - 454.
[Abstract] [PDF]

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 CLIN PEDIATRHome page
S. R. Patil and H. Zellweger
The Myth of Nonmongoloid Trisomy G
Clinical Pediatrics, August 1, 1981; 20(8): 534 - 536.
[Abstract] [PDF]