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

Volumn 132 A, Issue 1, 2005, Pages 84-89

  Meins, Moritz ^a   Hagh, Javad Karimzad ^a   Gerresheim, Fritz ^a   Einhoff, Elisabeth ^b   Olschewski, Heidi ^b   Strehl, Henning ^b   Epplen, Jörg T ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b KLINIKUM DORTMUND   (Germany)

Author keywords

Cytogenetic analysis; Dup(3q) minimal region; Dup(3q) syndrome; Gene disruption; Mental retardation; NLGN1

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 3; CHROMOSOME ABERRATION; CHROMOSOME Q BAND; CLINICAL EXAMINATION; CLINICAL FEATURE; CYTOGENETICS; DE LANGE SYNDROME; DUPLICATION 3Q SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE DUPLICATION; HUMAN; MALE; MOLECULAR PROBE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNAPTOGENESIS; TRISOMY;

CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; FACE; GENE DUPLICATION; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MENTAL RETARDATION; SYNDROME;

EID: 11244302445     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30384     Document Type: Article

References (30)

1. Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Baldini A. 1995. Duplication 3q syndrome: Molecular delineation of the critical region. Am J Med Genet 55:33-37.
2. Beck B, Mikkelsen M. 1981. Chromosomes in the Cornelia de Lange syndrome. Hum Genet 59:271-276.
3. Bronstein JM, Chen K, Tiwari-Woodruff S, Kornblum HI. 2000. Developmental expression of OSP/claudin-11. J Neurosci Res 60:284-290.
4. Colley WC, Altshuller YM, Sue-Ling CK, Copeland NG, Gilbert DJ, Jenkins NA, Branch KD, Tsirka SE, Bollag RJ, Bollag WB, Frohman MA. 1997. Cloning and expression analysis of murine phospholipase D1. Biochem J 326(Pt 3):745-753.
5. Faas BH, De Vries BB, Van Es-Van Gaal J, Merkx G, Draaisma JM, Smeets DF. 2002. A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clin Genet 62:315-320.
6. Falek A, Schmidt R, Jervis GA. 1966. Familial de Lange syndrome with chromosome abnormalities. Pediatrics 37:92-101.
7. Francke U, Opitz JM. 1979. Chromosome 3q duplication and the Brachmann-De Lange syndrome (BDLS). J Pediatr 95:161-163.
8. Holder SE, Grimsley LM, Palmer RW, Butler LJ, Baraitser M. 1994. Partial trisomy 3q causing mild Cornelia de Lange phenotype. J Med Genet 31:150-152.
9. Howard AD, Feighner SD, Cully DF, Arena JP, Liberator PA, Rosenblum CI, Hamelin M, Hreniuk DL, Palyha OC, Anderson J, Paress PS, Diaz C, Chou M, Liu KK, McKee KK, Pong SS, Chaung LY, Elbrecht A, Dashkevicz M, Heavens R, Rigby M, Sirinathsinghji DJ, Dean DC, Melillo DG, Patchett AA, Nargund R, Griffin PR, DeMartino JA, Gupta SK, Schaeffer JM, Smith RG, Van der Ploeg LH. 1996. A receptor in pituitary and hypothalamus that functions in growth hormone release. Science 273:974-977.
10. Ireland M, English C, Cross I, Lindsay S, Strachan T. 1995. Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype. J Med Genet 32:837-838.
11. Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T. 2003. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34:27-29.
12. Karolchik D, Baertsch R, Diekhans M, Furey TS, Hinrichs A, Lu YT, Roskin KM, Schwartz M, Sugnet CW, Thomas DJ, Weber RJ, Haussler D, Kent WJ. 2003. The UCSC Genome Browser Database. Nucleic Acids Res 31:51-54.
13. Krantz ID, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti BP, Strachan T, Jackson L. 2001. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. Am J Med Genet 101:120-129.
14. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631-635.
15. Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthelemy C, Moraine C, Briault S. 2004. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 74:552-557.
16. Lopez-Rangel E, Dill FJ, Hrynchak MA, Van Allen MI. 1993. Partial duplication of 3q (q25.1→q26.1) without the Brachmann-de Lange phenotype. Am J Med Genet 47:1068-1071.
17. Mitelman F, editor. 1995. ISCN (1995): An International system for human cytogenetic nomenclature. Basel: S. Karger.
18. Rizzu P, Haddad BR, Vallcorba I, Alonso A, Ferro MT, Garcia-Sagredo JM, Baldini A. 1997. Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region. Am J Med Genet 68:428-432.
19. Rooney DE. 2001. Human cytogenetics: A practical approach. Oxford, New York: Oxford University Press.
20. Rosenfeld W, Verma RS, Jhaveri RC, Estrada R, Evans H, Dosik H. 1981. Duplication 3q: Severe manifestations in an infant with duplication of a short segment of 3q. Am J Med Genet 10:187-192.
21. Scheiffele P, Fan J, Choih J, Fetter R, Serafini T. 2000. Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell 101:657-669.
22. Sciorra LJ, Bahng K, Lee ML. 1979. Trisomy in the distal end of the long arm of chromosome 3. A condition clinically similar to the Cornelia de Lange syndrome. Am J Dis Child 133:727-730.
23. Steinbach P, Adkins WN Jr, Caspar H, Dumars KW, Gebauer J, Gilbert EF, Grimm T, Habedank M, Hansmann I, Herrmann J, Kaveggia EG, Langenbeck U, Meisner LF, Najafzadeh TM, Opitz JM, Palmer CG, Peters HH, Scholz W, Tavares AS, Wiedeking C. 1981. The dup(3q) syndrome: Report of eight cases and review of the literature. Am J Med Genet 10:159-177.
24. Stengel-Rutkowski S, Murken JD, Pilar V, Dutrillaux B, Rodewald A, Goebel R, Bassermann K. 1979. New chromosomal dysmorphic syndromes. 3. Partial trisomy 3q. Eur J Pediatr 130:111-125.
25. Tiwari-Woodruff SK, Buznikov AG, Vu TQ, Micevych PE, Chen K, Kornblum HI, Bronstein JM. 2001. OSP/claudin-11 forms a complex with a novel member of the tetraspanin super family and beta1 integrin and regulates proliferation and migration of oligodendrocytes. J Cell Biol 153:295-305.
26. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, 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. Nat Genet 36:636-641.
27. Tranebjaerg L, Baekmark UB, Dyhr-Nielsen M, Kreiborg S. 1987. Partial trisomy 3q syndrome inherited from familial t(3;9)(q26.1; p23). Clin Genet 32:137-143.
28. van Essen AJ, Kok K, van denBerg A, de Jong B, Stellink F, Bos AF, Scheffer H, Buys CH. 1991. Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28. Hum Genet 87:151-154.
29. Wilson GN, Hieber VC, Schmickel RD. 1978. The association of chromosome 3 duplication and the Cornelia de Lange syndrome. J Pediatr 93:783-788.
30. Wilson GN, Dasouki M, Barr M Jr. 1985. Further delineation of the dup(3q) syndrome. Am J Med Genet 22:117-123.