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October 1978

Ring Chromosome 13 in a Child With Minor Dysmorphic Features: Irregular Phenotypic Expression of Ring 13 Syndrome

Author Affiliations

From the Division of Hematology and Cytogenetics, Department of Medicine (Drs Verma and Dosik), and the Department of Pediatrics (Drs Chowdhry and Jhaveri), The Jewish Hospital and Medical Center; and the Departments of Medicine (Drs Verma and Dosik) and Pediatrics (Dr Jhaveri), State University of New York Downstate Medical Center, Brooklyn.

Am J Dis Child. 1978;132(10):1018-1021. doi:10.1001/archpedi.1978.02120350082018

• A patient with ring chromosome 13 had some physical stigmata that to our knowledge have not been reported in previous articles. These include alopecia, scattered pigmentation, trigonocephaly, and telecanthic fold. This case reemphasizes how mitotic instability can produce clinical features during the critical period of organogenesis.

(Am J Dis Child 132:1018-1021, 1978)

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