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Report of a Case

Maimon M. Cohen, PhD; Nabuo Takagi, MS; Emma K. Harrod, MD

Am J Dis Child. 1968;115(2):185-190.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

THE D₁ trisomy syndrome is usually characterized by a rather stable complex of physical anomalies.¹ The cytogenetic abnormality most frequently associated with it is an extra member of group D (13-15), the large acrocentric elements, yielding a modal number of 47 chromosomes. In some cases, patients with the syndrome have only 46 chromosomes and are carriers for a D/D translocation. However, they still possess most of the genetic information of 47 chromosomes. Reports of such D₁ trisomic translocation carriers have been reviewed by Hecht et al² and Pinkerton and Cohen.³ Although almost all have been sporadic in nature, ie, the translocation chromosome was not inherited from either parent, a few familial cases have been observed.³ We wish to report a sporadic case of D₁ trisomy in which the proposita possessed a modal number of 45 chromosomes and carried two D/D translocation chormosomes.

Report . . . [Full Text PDF of this Article]

Author Affiliations
Buffalo, NY

From the Division of Human Genetics, Department of Pediatrics, State University of New York and Buffalo Children's Hospital, Buffalo (Drs. Cohen and Harrod), and the Department of Medicine C. Roswell Park Memorial Institute, Buffalo (Mr. Takagi).

Footnotes
Received for publication Sept 5, 1967.

Submitted by the authors for the Mitchell I. Rubin Festschrift issue of the JOURNAL.

Reprint requests to 219 Bryant St, Buffalo 14222 (Dr. Cohen).

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