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.
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.
Authors: Lindsay B Henderson; Virginia L Corson; Daniel O Saul; Cynthia Anderson; Sarah Millard; Denise A S Batista; Karin J Blakemore; Cheryl Descipio Journal: Case Rep Genet Date: 2013-02-21