Balkan Journal of Medical Genetics

RING CHROMOSOME 22: A REVIEW OF THE LITERATURE AND FIRST REPORT FROM INDIA
Mahajan S, Kaur A, Singh JR
*Corresponding Author: Dr. Anupam Kaur, Department of Human Genetics, Guru Nanak Dev University, Grand Trunk Road, Amritsar, Punjab, 143005, India; Tel.: +91-183-225-8802, Ext. 3447; Cell: +987-223-9393; Fax: +91-183-225-8863, 225-8820; E-mail: anupamkaur@yahoo.com
page: 55

INTRODUCTION

Ring chromosome 22 [r(22)] was fi rst described by Weleber et al. in 1968 [1]. Ring chromosomes arise from terminal breaks on both arms of a chromosome followed by fusion. The amount of genetic material lost in this process depends upon the breakpoints. Ring chromosome 22 is usually caused by spontaneous or de novo errors very early in the development of the embryo that appear to occur randomly for unknown reasons. Since r(22) is a rare disorder, its incidence is not known. Apart from the usual clinical manifestations, some variations have also been reported in some studies such as arachnoid cyst in posterior cerebellum [2]. Further investigations by the authors revealed deletion in 22q13.3 (Arylsulphatase A region) visualized by fl uorescent in situ hybridization (FISH). Hypertension, large ears, hand and feet and torticollis were the other varied features reported [3] (Table 1).

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