A new case of rare proximal 3q13 interstitial deletion

Central European Journal of Medicine

Volumn 6, Issue 5, 2011, Pages 625-630

  Lovrecic, Luca ^a   Rudolf, Gorazd ^a   Veble, Alenka ^a   Peterlin, Borut ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

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

Indexed keywords

ZINC FINGER PROTEIN;

ADULT; ARTICLE; BODY DYSMORPHIC DISORDER; CASE REPORT; CHROMOSOME 3Q; CHROMOSOME 3Q13; CHROMOSOME BREAKAGE; CHROMOSOME G BAND; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM; CRANIOFACIAL MALFORMATION; CRYPTORCHISM; GAP43 GENE; GENE; GENE DELETION; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KYPHOSIS; MALE; MENTAL DEFICIENCY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; ZINC FINGER MOTIF;

EID: 81455131734     PISSN: 18951058     EISSN: 16443640     Source Type: Journal    
DOI: 10.2478/s11536-011-0054-9     Document Type: Article

References (15)

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
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
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 (Pubitemid 24360777)
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 (Pubitemid 15144927)
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
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 (Pubitemid 44370561)
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 (Pubitemid 28210082)
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
9. N. Okada, T. Hasegawa, M. Osawa, Y. Fukuyama. A case of de novo interstitial deletion 3q. J Med Genet. 1987:24(5):305-308 (Pubitemid 17091424)
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 (Pubitemid 351975485)
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
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 (Pubitemid 47415270)
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
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
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 (Pubitemid 34033501)