Ring chromosome 7 in an Indian woman

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...

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Bibliographic Details
Published inJournal of Intellectual and Developmental Disability Vol. 33; no. 1; pp. 87 - 94
Main Authors Kaur, Anupam, Dhillon, Sumit, Garg, P. D., Rup Singh, Jai
Format Report
LanguageEnglish
Published Routledge 01.03.2008
Subjects
microcephaly
mosaic
Ring chromosome
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Summary: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.
ISSN:1366-8250
1469-9532
DOI:10.1080/13668250701829829