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Pokale Y.,Kokilaben Dhirubhai Ambani Hospital and Medical Research Center andheri W | Bansal P.,Kokilaben Dhirubhai Ambani Hospital and Medical Research Center andheri W | Vedpathak J.,Kokilaben Dhirubhai Ambani Hospital and Medical Research Center andheri W | Kulkarni S.,Kokilaben Dhirubhai Ambani Hospital and Medical Research Center andheri W | And 2 more authors.
International Journal of Human Genetics | Year: 2014

Opitz Trigonocephaly C syndrome (OTCS) or Opitz C Syndrome or C syndrome is a congenital malformation syndrome characterized by trigonocephaly, mental retardation and several other dysmorphic features. Commonly reported chromosomal abnormalities associated with trigonocephaly include 3q-, 7p-, 9p-, 11q-, and trisomy 13q. The present case report describes a patient with derivative 7, due to an unbalanced translocation t(7;13)(p22;q21), with a clinical phenotype of OTCS. To the best of researchers' knowledge, this is the second published case report on Opitz Trigonocephaly C syndrome with similar chromosomal abnormality from India. © Kamla-Raj 2014.

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