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.


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.
Kaur
Anupam
A
Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India. anupamkaur@yahoo.com
Dhillon
Sumit
S
Garg
P D
PD
Singh
Jai Rup
JR
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*