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July 1979

Trisomy in the Distal End of the Long Arm of Chromosome 3A Condition Clinically Similar to the Cornelia de Lange Syndrome

Author Affiliations

From the Division of Medical Genetics, Department of Pediatrics, College of Medicine and Dentistry of New Jersey-Rutgers Medical School, Piscataway (Drs Sciorra and Lee), and the Division of Cytogenetics, Roche Clinical Laboratories, Raritan, NJ (Dr Bahng).

Am J Dis Child. 1979;133(7):727-730. doi:10.1001/archpedi.1979.02130070063013

• A patient had a trisomy for the distal portion of the third chromosome. The major clinical features were failure to thrive, profound mental retardation, dysmorphic head shape, a short nose, anteverted nares, long eyelashes, synophrys, characteristic mouth, and short stature. The similarities between the clinical picture and the Cornelia de Lange syndrome are very striking.

(Am J Dis Child 133:727-730, 1979)