Large duplication 4q25-q34 with mild clinical effect

Annales de Genetique

Volumn 47, Issue 4, 2004, Pages 419-422

  Elghezal, Hatem ^a   Sendi, Halima Sennana ^a   Monastiri, Kamel ^b   Lapierre, Jean Michel ^c   Romdhane, Samira Ibala ^a   Mougou, Soumaya ^a   Saad, Ali ^a  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b FATTOUMA BOURGUIBA UNIVERSITY HOSPITAL   (Tunisia)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

CGH; Chromosome 4; De novo; FISH; Partial trisomy; Tandem duplication

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CHROMOSOME DUPLICATION; COMPARATIVE STUDY; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GROWTH RETARDATION; HUMAN; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PARTIAL TRISOMY 4Q; PRESCHOOL CHILD;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 4; GENE DUPLICATION; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; MICROCEPHALY; TRISOMY; TUNISIA;

EID: 9644259062     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anngen.2004.07.007     Document Type: Article

References (8)

1. L. Celle, L. Lee, N. Rintoul, R.C. Savani, W. Long, M.T. Mennuti, and I.D. Krantz Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes Am. J. Med. Genet. 94 2000 125 140
2. B.K. Goodman, G.T. Capone, J. Hennessey, and G.H. Thomas Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect Am. J. Med. Genet. 73 1997 119 124
3. J.M. Lapierre, V. Cacheux, N. Collot, F. Da:silva, N. Hervy, D. Rivet, S. Romana, J. Wiss, B. Benzaken, A. Aurias, and G. Tachdjian Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities Ann. Genet. 41 1998 133 140
4. C. Lundin, L. Zech, K. Sjrs, C. Wadelius, and G. Anneŕn Trisomy 4q syndrome: presentation of a new case and review of the literature Ann. Genet. 45 2002 53 57
5. E.L. Maltby, I.C. Barnes, and C.P. Bennett Duplication involving band 4q32 with minimal clinical effect Am. J. Med. Genet. 83 1999 431
6. R.V. Mikelsaar, I.W. Lurie, and T.E. Ilus Pure partial trisomy 4q25-qter owing to a de novo 4;22 translocation J. Med. Genet. 33 1996 344 345
7. A. Schinzel Catalogue of unbalanced chromosome aberrations in man 2001 Walter de Gruyter Berlin, New York 207 218
8. M. Zollino, G. Zampino, G. Torrioli, M.G. Pomponi, and G. Neri Further contribution to the description of phenotypes associated with partial 4q duplication Am. J. Med. Genet. 57 1995 69 73