Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication.

摘要

About 70 cases of partial trisomy 2p have been reported. The additional material is usually carried by a derivative chromosome resulting from an unbalanced reciprocal translocation [Siffroi et al., 1994; Hahm et al., 1999; Al-Saffar et al., 2000; Aviram-Goldring et al., 2000; Roberts et al., 2004]. To speculate on the specific contribution of dosage-sensitive genes present on 2p is challenging in these combined aneusomies. Pure partial 2p duplications are rare [Fineman et al., 1983]. They usually involve the distal 2p21-2pter region [Aviram-Goldring et al., 2000] and are usually associated with a severe neurological phenotype. Seven cases of pure interstitial duplications, affecting the 2p12-2p21 region, have been described. Their phenotype combines minor facial anomalies, growth failure, heart and limb anomalies. Psychomotor delay was reported only in two cases [Aviram-Goldring et al., 2000]. We report on a fetus with a pure 2p14-p16 duplication and compare its phenotype to cases with a larger deletion.