DE NOVO DUPLICATION OF CHROMOSOME 7 (q21.1-q32); CASE REPORT AND REVIEW OF THE LITERATURE
Nasiri F1, Mahjoubi F1,2,*, Babamohammadi G1
*Corresponding Author: Dr. Frouzandeh Mahjoubi, The Blood Transfusion Organization Research Center (IBTO), Hemmat Exp.Way, Next to Milad Tower, Tehran, Iran; P.O. Box 14665-1157; Tel.: +9821-88601501-30; Fax: +9821-88601555; E-mail:Frouz@nigeb.ac.ir
page: 37

INTRODUCTION

Partial trisomy/duplication of chromosome 7q is associated with a characteristic syndrome of frontal bossing, retrognathia, small jaw, low-set ears, dysplastic ears, deep-set and prominent eyes, strabismus, down-curved upper lip, small mouth, short hands, stiffness of fingers and other joints, joint laxity, scoliosis, reduced muscle tone, hydrocephalus, growth retardation, strabismus, coloboma of iris, drooping upper eyelid, widely-spaced eyes, long eyelashes and short space between eyelids [1-8].




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