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

DISCUSSION

The clinical fi ndings of our case were similar to the description in the literature (Table 1). These features overlap with patients presenting terminal 22q13.3 deletion syndrome (Table 2) except for dental malocclusion, seizures, unsteady gait, etc. Microcephaly may also be a part of a well recognized syndrome and intellectual disability is a common feature in these individuals [5]. Fluorescent in situ hybridization could not be carried out in present case due to some technical reasons. Ring chromosomes are formed as a result of breakage and reunion in the distal p and q arms accompanying loss of the p arm and satellite materials in these regions. Ring chromosomes, though a rare chromosomal abnormality involves telomere pairing or deletion. The size of the deleted distal q arm segment affects the overall phenotype. In addition to ring formation, deletion of the 22q13 region of chromosome 22 represents a cytogenetic microdeletion syndrome with severe speech delay, autism, hypotonia, developmental delay and minimal facial dysmorphism [6-8]. Most of the cases reported with r(22) are males and the ratio of females is very much less. There is one report of a 3-year-old girl and another is a case of familial transmission of r(22) from a phenotypically normal mother to her daughter [9,10]. Cases of ring chromosomes usually show a non specifi c pattern of clinical symptoms; therefore, the presence of growth retardation, microcephaly, speech delay should provide suffi cient reason to consider performing a karyotype determination on the patient. Severe growth delay is more common in cases in larger chromosomal rings. The ring behavior and structure causes growth failure, which is often the sole major physical abnormality in many cases of ring syndromes [5,11]. As both the parents of proband showed a normal chromosomal constitution, the aberration found in the proband was considered to be a de novo event. Ring formation is associated with deletion of the terminal regions of the chromosome involved. Fluorescent in situ hybridization and molecular analyses would be helpful to fully characterize the present case. Testing of the proband helped both in counseling the parents regarding the cause of disease in their child as well as prevention of recurrence of the abnormality in future pregnancies.

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