Partial trisomy 4q: a case report

摘要

The clinical findings frequently presented in trisomy 4q syndrome including mental retardation, developmental delay and multiple abnormalities such as microcephaly, acrocephaly, as well as malformed ears, high/broad/depressed nasal bridge, teeth and thumb anomalies. It has been proposed that trisomy 4q is caused by a familial balanced translocation or a de novo imbalance. We reported a new case of trisomy 4q with a karyotype of 46, XY, der(5)t(4;5)(q27;q35) and this karyotye was reported for the first time. His phenotype included severe mental retardation, growth retardation, facial and thumb anomalies. Detected by cytogenetic investigation, comparative genomic hybridization, multicolor fluorescence in situ hybridization, the duplicated region from 4q27 to 4qter was confirmed. Trisomy 4q is a rare clinical finding. To our knowledge, this is the eighth case with duplicated fragment spanning from 4q27 to 4qter. Comparing the karyotypic and phenotypic correlation with those previously described, we reported a new case with partial trisomy 4q syndrome.