A Case of 13 Ring Chromosome Syndrome

ABSTRACT

We have experienced a case of 13 ring chromosome in a 40-month-old girl who demonstrated psychomotor retardation with delayed speech, growth retardation, hearing loss(left), microcephaly, trigonocephaly with flat occiput, hypertelorism, epicanthal folds, microophthalmia, broad prominamt nasal bridge, high arched palate, micrognathia, large auricles and other anomalies. Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46, XX, r13. Her parents' karyotypes were normal. We reported the case with the review of the associated literatures.