 |
 |

Trisomy in the Distal End of the Long Arm of Chromosome 3A Condition Clinically Similar to the Cornelia de Lange Syndrome
Leonard J. Sciorra, PhD;
Kyu Bahng, MS;
Ming-liang Lee, MD, PhD
Am J Dis Child. 1979;133(7):727-730.
Abstract
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)
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).
Footnotes
Reprint requests to Division of Medical Genetics, Department of Pediatrics, College of Medicine and Dentistry of New Jersey-Rutgers Medical School, Piscataway, NJ 08854 (Dr Sciorra).
CiteULike Connotea Del.icio.us Digg Reddit Technorati Twitter
What's this?
|