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ERIC Number: EJ787087
Record Type: Journal
Publication Date: 2008-Mar
Pages: 8
Abstractor: Author
ISBN: N/A
ISSN: ISSN-1366-8250
EISSN: N/A
Ring Chromosome 7 in an Indian Woman
Kaur, Anupam; Dhillon, Sumit; Garg, P. D.; Singh, Jai Rup
Journal of Intellectual & Developmental Disability, v33 n1 p87-94 Mar 2008
Background: Ring chromosome 7 [r(7)] is a rare cytogenetic aberration, with only 16 cases (including 3 females) reported in the literature to date. This is the first reported case of r(7) from India. Method: Clinical and cytogenetic investigations were carried out in an adult female with microcephaly and intellectual disability. Results: Ring chromosome 7 was observed in 10% of the metaphases (46,XX,r(7)/46,XX). The clinical findings revealed microcephaly, growth delay, and dark pigmented naevi. Conclusion: The mosaicism for a chromosomal anomaly is an under-recognised cause of intellectual disability. (Contains 2 tables and 3 figures.)
Taylor & Francis, Ltd. 325 Chestnut Street Suite 800, Philadelphia, PA 19106. Tel: 800-354-1420; Fax: 215-625-2940; Web site: http://www.tandf.co.uk/journals/default.html
Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Identifiers - Location: India
Grant or Contract Numbers: N/A