Jump to ContentJump to Main Navigation
Show Summary Details
Weitere Optionen …

Open Medicine

formerly Central European Journal of Medicine

Editor-in-Chief: Darzynkiewicz, Zbigniew


IMPACT FACTOR 2018: 1.221

CiteScore 2018: 1.01

SCImago Journal Rank (SJR) 2018: 0.329
Source Normalized Impact per Paper (SNIP) 2018: 0.479

ICV 2017: 152.94

Open Access
Online
ISSN
2391-5463
Alle Formate und Preise
Weitere Optionen …
Band 6, Heft 5

Hefte

Volume 10 (2015)

A new case of rare proximal 3q13 interstitial deletion

Luca Lovrecic
  • Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Šlajmerjeva 3, SI-1000, Ljubljana, Slovenia
  • E-Mail
  • Weitere Artikel des Autors:
  • De Gruyter OnlineGoogle Scholar
/ Gorazd Rudolf
  • Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Šlajmerjeva 3, SI-1000, Ljubljana, Slovenia
  • E-Mail
  • Weitere Artikel des Autors:
  • De Gruyter OnlineGoogle Scholar
/ Alenka Veble
  • Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Šlajmerjeva 3, SI-1000, Ljubljana, Slovenia
  • E-Mail
  • Weitere Artikel des Autors:
  • De Gruyter OnlineGoogle Scholar
/ Borut Peterlin
  • Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Šlajmerjeva 3, SI-1000, Ljubljana, Slovenia
  • E-Mail
  • Weitere Artikel des Autors:
  • De Gruyter OnlineGoogle Scholar
Online erschienen: 09.08.2011 | DOI: https://doi.org/10.2478/s11536-011-0054-9

Abstract

We present the case of a 20-year-old man referred to the clinical geneticist because of mental retardation and dysmorphic features because of concerns about hereditability when his older, healthy brother was expecting a child. Deletion of proximal 3q arm was found with standard G-banding, and array comparative genomic hybridisation (array-CGH) was used to further locate the breakpoints. A unique interstitial deletion del 3q13.11q13.33 was confirmed. The first clinical symptoms in the 20-year-old were described at the age of 4 months when the pediatrician reported muscle hypertonia of the lower limbs, which later evolved into hypotonia. Later clinical observations revealed that the patient’s psychomotor development was delayed: he exhibited craniofacial abnormalities, cryptorchidism, thoracic kyphosis, and tapering fingers. Interstitial deletions of the proximal long arm of chromosome 3 have rarely been reported:; there are only 12 previously reported cases. The breakpoints and sizes of described deletions vary greatly, which makes definite genotype-phenotype conclusions impossible at this time. Developmental delay is one of the common features described in the majority of reported cases. The BTB-zinc finger gene ZBTB20 might be a potential candidate gene: it was shown in the mouse hippocampus to be expressed during the important period of neurogenesis of pyramidal neurons. Also, four of patients reported to date had agenesis of the corpus callosum and one, holoprosencephaly. We suggest that the GAP43 gene is involved in the development of structural neurological abnormalities in patients with 3q deletion.

Keywords: 3q13.11-q13.33; Array CGH; Interstitial deletion; Mental retardation; GAP-43; ZBTB20

  • [1] K. Arai, H. Matukiyo, H. Takazawa. A case report of partial deletion of the long arm of the no.3 chromosome. Med Genet Res 1982:4:1–4 Google Scholar

  • [2] H. Fujita, J. Meng, M. Kawamura, N. Tozuka, F. Ishii, N. Tanaka. Boy with a chromosome del (3) (q12q23) and blepharophimosis syndrome. Am J Med Genet. 1992:1;44(4):434–436 http://dx.doi.org/10.1002/ajmg.1320440409CrossrefGoogle Scholar

  • [3] M. Genuardi, F. Calvieri, C. Tozzi, R. Coslovi, G. Neri. A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum. Clin Dysmorphol. 1994:3(4):292–296 http://dx.doi.org/10.1097/00019605-199410000-00003CrossrefGoogle Scholar

  • [4] M.B. Jenkins, H.J. Stang, E. Davis, L. Boyd. Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome. Ann Genet. 1985:28(1):42–44 Google Scholar

  • [5] R. Kosaki, Y. Fukuhara, M. Kosuga, T. Okuyama, N. Kawashima, T. Honna et al. OEIS complex with del(3)(q12.2q13.2). Am J Med Genet A. 2005;135(2):224–226 Google Scholar

  • [6] A. Lawson-Yuen, S.A. Berend, J.S. Soul, M. Irons. Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin Dysmorphol. 2006:15(4):217–220 http://dx.doi.org/10.1097/01.mcd.0000220609.17284.a9CrossrefGoogle Scholar

  • [7] C. Mackie Ogilvie, S.C. Rooney, S.V. Hodgson, A.C. Berry. Deletion of chromosome 3q proximal region gives rise to a variable phenotype. Clin Genet. 1998:53(3):220–222 http://dx.doi.org/10.1111/j.1399-0004.1998.tb02681.xCrossrefGoogle Scholar

  • [8] L.E. McMorrow, C.S. Reid, A. Coleman, M. Medeiros, T. D’Andrea, T. Santucci et al. A new interstitial deletion of the long arm of chromosome 3. Am J Hum Genet. 1986:39:A124 Google Scholar

  • [9] N. Okada, T. Hasegawa, M. Osawa, Y. Fukuyama. A case of de novo interstitial deletion 3q. J Med Genet. 1987:24(5):305–330 http://dx.doi.org/10.1136/jmg.24.5.305CrossrefGoogle Scholar

  • [10] M.J. Simovich, S.D. Bland, D.A. Peiffer, K.L. Gunderson, S.W. Cheung, S.A. Yatsenko et al. Delineation of the Proximal 3q Microdeletion Syndrome. Am J Med Genet PartA. 2008:146A:1729–1735 http://dx.doi.org/10.1002/ajmg.a.32292CrossrefGoogle Scholar

  • [11] K. Shimojima, K. Saito, T. Yamamoto. A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay. Am J Med Genet A. 2009:149A(8):1818–1822 http://dx.doi.org/10.1002/ajmg.a.32963CrossrefWeb of ScienceGoogle Scholar

  • [12] L.G. Shaffer, A. Theisen, B.A. Bejjani, B.C. Ballif, A.S. Aylsworth, C. Lim et al. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med. 2007:9(9):607–616 http://dx.doi.org/10.1097/GIM.0b013e3181484b49CrossrefWeb of ScienceGoogle Scholar

  • [13] D.T. Miller, M.P. Adam, S. Aradhya, L.G. Biesecker, A.R. Brothman, N.P. Carter et al. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies. Am J Hum Genet 2010:86(5):749–764 http://dx.doi.org/10.1016/j.ajhg.2010.04.006CrossrefWeb of ScienceGoogle Scholar

  • [14] S.M. Strittmatter, C. Fankhauser, P.L. Huang, H. Mashimo, M.C. Fishman. Neuronal pathfinding is abnormal in mice lacking the neuronal growth cone protein GAP-43. Cell 1995:80:445–452 http://dx.doi.org/10.1016/0092-8674(95)90495-6CrossrefGoogle Scholar

  • [15] Y. Shen, S. Mani, S.L. Donovan, J.E. Schwob, K.F Meiri. Growth-associated protein-43 is required for commissural axon guidance in the developing vertebrate nervous system. J Neurosci. 2002:22(1):239–247 Google Scholar

Artikelinformationen

Online erschienen: 09.08.2011

Erschienen im Druck: 01.10.2011


Quellenangabe: Open Medicine, Band 6, Heft 5, Seiten 625–630, ISSN (Online) 2391-5463, DOI: https://doi.org/10.2478/s11536-011-0054-9.

Zitat exportieren

© 2011 Versita Warsaw. This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License. BY-NC-ND 3.0

Zitierende Artikel

Hier finden Sie eine Übersicht über alle Crossref-gelisteten Publikationen, in denen dieser Artikel zitiert wird. Um automatisch über neue Zitierungen dieses Artikels informiert zu werden, aktivieren Sie einfach oben auf dieser Seite den „E-Mail-Alert: Neu zitiert“.

[1]
Marie-Laure Vuillaume, Marie-Ange Delrue, Sophie Naudion, Jérôme Toutain, Patricia Fergelot, Benoit Arveiler, Didier Lacombe, and Caroline Rooryck
Molecular Genetics and Metabolism, 2013, Jahrgang 110, Nummer 1-2, Seite 90

Kommentare (0)