Ramachandra, CChalla, Vasu ReddyShetty, Rachan2015-03-092015-03-092014-04Ramachandra C, Challa Vasu Reddy, Shetty Rachan. Constitutional mismatch repair deficiency syndrome: Do we know it. Indian Journal of Human Genetics. 2014 Apr-Jun ; 20 (2): 192-194.http://imsear.searo.who.int/handle/123456789/156660Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis‑1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature.enConstitutional mismatch repair deficiencyhereditary nonpolyposis colorectal cancerLynch syndromemismatch repair genesChildColorectal Cancer, Hereditary Nonpolyposis --diagnosisDNA Mismatch Repair --geneticsHumansLynch Syndrome II --diagnosisLynch Syndrome II --geneticsMaleArticle