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
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RESULTS
Informed parental consent was obtained before
the investigations were begun. Peripheral blood
of the proband and his parents was cultured in an
RPMI 1640 (Biological Industries, Kubbutz Baet
Haemek 25225, Israel) using standard protocols.
Slides were banded using standard GTG-banding
techniques with some modifi cations [4] such as
normal saline was used to wash the slides instead
of buffer. Examination of 100 metaphases revealed
46,XY, r(22) in all cells (Figure 1c) of the proband.
The parental karyotypes were normal. To the best
of our knowledge, this is the fi rst reported case with
r(22) from India.
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