De novo duplication 3q in an infant with a vascular ring and features overlapping Cornelia de Lange phenotype

Daniela Iacoboni, Nermin Kady, M. Myrtha Gregoire-Bottex, Michael Netzloff, Sainan Wei

Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, East Lansing, USA.

DOI: 10.4236/crcm.2013.21014                

Abstract

Partial duplication of chromosome 3q is a recognizable syndrome with characteristic facial features, microcephaly, digital anomalies, genitourinary and cardiac defects as well as growth retardation and developmental delays. While there is clinical overlap with the unrelated Cornelia de Lange syndrome (CDLS), there are distinguishing features and molecular etiologies. Most cases of 3q duplication appear to be the result of an unbalanced translocation or inversion and therefore accompanied by additional cytogenetic anomalies. Consequently, pure duplications of 3q are very rare; we are aware of only 12 such cases that have been reported previously. Here, we present a new case of pure, partial 3q duplication in a 3-month-old female who displayed a number of clinical signs consistent with previously reported phenotypes and the additional novel finding of a vascular ring.

Keywords

Cornelia de Lange; 3q Duplication; Trisomy 3q; Pure 3q Duplication

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1]	Schinzel, A. (2001) A catalog of unbalanced chromosome aberration in man. 2nd Edition, De Gruyter Verlag, Berlin, New York.
[2]	Shanske, A.L., Leonard, J., Nahum, O., Hu, T. and Desai, J.P. (2004) Soft-tissue material properties under large deformation: Strain rate effect. Proceedings of the 26th Annual International Conference of the IEEE EMBS, San Francisco, 1-5 September 2004, 2758-2761.
[3]	Faas, D.H.W., de Vries, B.B.A., van Es-van Gaal, J., Merk, G., Draaisma, J.M.T. and Smeets, D.F.C.M. (2002) A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clinical Genetics, 62, 315-320. doi:10.1034/j.1399-0004.2002.620411.x
[4]	Salazar, D., Rosenfeld, W., Verma, R.S., Jhaveri, R.C. and Dosik, H. (1979) Partial trisomy of chromosome 3 (3q12 leads to qter) owing to 3q/18p translocation. A trisomy 3q syndrome. American Journal of Diseases of Children, 133, 1006-1008.
[5]	Holder, S., Grimsley, L., Palmer, R., Bulter, L. and Baraitser, M. (1994) Partial trisomy 3q causing mild Cornelia de Lange phenotype. American Journal of Medical Genetics, 31, 150-152.
[6]	Dundar, M., Uzak, A., Erdogan, M., Saatci, C., Akdeniz, S., Luleci, G., Keser, I. and Karauzum, S. (2011) Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype. Genetic Counseling, 22, 199-205.
[7]	Grossmann, V., Muller, D., Muller, W., Fresser, F., Erdel, M., Janecke, A.R., Zchocke, J., Utermann, G. and Kotzot, D. (2009) “Essential” pure trisomy 3q27->qter: Further delineation of the partial trisomy 3q phenotype. American Journal of Medical Genetics, 149A, 2522-2526. doi:10.1002/ajmg.a.33058
[8]	Aqua, M.S., Rizzu. P., Lindsay, E.A., Shaffer, L.G., Zackai, E.H., Overhauser, J. and Baldini, A. (2005) Duplication 3q syndrome: Molecular delineation of the critical region. American Journal of Medical Genetics, 55, 33-37. doi:10.1002/ajmg.1320550111
[9]	Meins, M., Hagh, J.K., Gerresheim, F., Einhoff, E., Olschewski, H., Strehl, H. and Epplen, J.T. (2005) Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup (3q) critical region. American Journal of Medical Genetics, 132A, 84-89. doi:10.1002/ajmg.a.30384
[10]	Falek, A., Schmidt, R. and Jervis, G.A. (1966) Familial de Lange syndrome with chromosome abnormalities. Pediatrics, 37, 92-101.
[11]	Sciorra, L.J., Bahng, K. and Lee, M. (1979) Trisomy in the distal end of the long arm of chromosome 3: A condition clinically similar to the Cornelia de Lange syndrome. American Journal of Diseases of Children, 133, 727-730.
[12]	Wilson, G.N., Hieber, V.C. and Schmickel, R.D. (1978) The association of chromosome 3 duplication and the Cornelia de Lange syndrome. Journal of Pediatrics, 93, 783-788. doi:10.1016/S0022-3476(78)81077-4
[13]	Francke, U. (1978) Clinical syndromes associated with partial duplications of chromosomes 2 and 3: dup(2p), dup(2q), dup(3p), dup(3q). Birth Defects Original Article Series, 14, 191-217.
[14]	Francke, U. and Opitz, J.M. (1979) Chromosome 3q duplication and the Brachmann-De Lange syndrome (BDLS). Journal of Pediatrics, 95, 161-163. doi:10.1016/S0022-3476(79)80124-9
[15]	Krantz, I.D., Tonkin, E., Smith, M., Devoto, M., Bottani, A., Simpson, C., Hofreiter, M., Abraham, V., Jukofsky, L., Conti, B.P., Strachan, T. and Jackson, L. (2001) Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. American Journal of Medical Genetics, 101, 120129. doi:10.1002/1096-8628(20010615)101:2<120::AID-AJMG1319>3.0.CO;2-G
[16]	Krantz, I.D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L.A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C.A., Nowaczyk, M.J., Toriello, H., Bamshad, M.J., Carey, J.C., Rappaport, E., Kawauchi, S., Lander, A.D., Calof, A.L., Li, H.H., Devoto, M. and Jackson, L.G. (2004) Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genetics, 36, 631-635. doi:10.1038/ng1364
[17]	Tonkin, E.T., Wang, T.J., Lisgo, S., Bamshad, M.J., Strachan, T. (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genetics, 115, 139-148.
[18]	Liu, J. and Baynam, G. (2010) Cornelia de Lange syndrome. Advances in Experimental Medicine and Biology, 685, 111-123. doi:10.1007/978-1-4419-6448-9_11
[19]	Fineman, R.M., Hecht, F., Ablow, R.C., Howard, R.O. and Breg, W.R. (1978) Chromosome 3 duplication q/deletion p syndrome. Pediatrics, 61, 611-618.
[20]	Mulcahy, M.T., Pemberton, P.J. and Sprague, P. (1979) Trisomy 3q: Two clinically similar but cytogenetically different cases. Annales De Genetique, 22, 217-220.
[21]	Lim, A.S., Lim, T.H., Chia, P., Raman, S., Pickering, D.L., Zaleski, D.H., Sanger, W.G. and Tien, S.L. (2004) A case of pure partial duplication 3q in a fetus due to a maternally inherited der(5)ins(5;3)(q33.1;q26.2q27) delineated by FISH. Prenatal Diagnosis, 24, 923-936. doi:10.1002/pd.1041
[22]	Stengel-Rutkowski, S., Murken, J.D., Pilar, V., Dutrillaux, B., Rodewald, A., Goebel, R. and Bassermann, R. (1979) New chromosomal dysmorphic syndromes: 3. partial trisomy 3q. European Journal of Pediatrics, 130, 111-125. doi:10.1007/BF00442348
[23]	Van Essesn, A.J., Kok, K., van den Berg, A., de Jong, B., Stellink, F., Bos, A.F., Scheffer, H. and Buys, C.H.C.M. (1991) Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28. Human Genetics, 87, 151-154. doi:10.1007/BF00204171