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July 1979

Trisomy in the Distal End of the Long Arm of Chromosome 3: A 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)

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