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  • Title: Ring chromosome 7 in an Indian woman.
    Author: Kaur A, Dhillon S, Garg PD, Singh JR.
    Journal: J Intellect Dev Disabil; 2008 Mar; 33(1):87-94. PubMed ID: 18300171.
    Abstract:
    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.
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