title: Ring chromosome 7 in an Indian woman.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The mosaicism for a chromosomal anomaly is an under-recognised cause of intellectual disability.
authors.affiliation: Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India. anupamkaur@yahoo.com
authors.forename: Anupam
authors.initials: A
authors.lastname: Kaur
authors.forename: Sumit
authors.initials: S
authors.lastname: Dhillon
authors.forename: P D
authors.initials: PD
authors.lastname: Garg
authors.forename: Jai Rup
authors.initials: JR
authors.lastname: Singh
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D007194:India; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008214:Lymphocytes / Q000378:metabolism; D008677:Metaphase; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009030:Mosaicism; D009508:Nevus, Pigmented / Q000235:genetics*; D010641:Phenotype; D012303:Ring Chromosomes; D012878:Skin Neoplasms / Q000235:genetics*