| 1 | DUP5QD, FGFR4
|
| Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.
|
| Jamsheer A, Sowiska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleska A.
|
| BMC Med Genet 14:13. doi: 10.1186/1471-2350-14-13.
2013
|
| 2 | DUP5QD, MSX2
|
| Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia.
|
| Ott CE, Hein H, Lohan S, Hoogeboom J, Foulds N, Grnhagen J, Stricker S, Villavicencio-Lorini P, Klopocki E, Mundlos S.
|
| J Med Genet 49(7):437-41. Epub 2012 Jun 20.
2012
|
| 3 | DUP5QD, MSX2
|
| Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: An association with Hunter-McAlpine syndrome?
|
| Sellars EA, Zimmerman SL, Smolarek T, Hopkin RJ.
|
| Am J Med Genet A 155(6):1409-13. doi: 10.1002/ajmg.a.33997. Epub 2011 May 12.
2011
|
| 4 | DUP5QD
|
| Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).
|
| Giorda R, Bonaglia MC, Milani G, Baroncini A, Spada F, Beri S, Menozzi G, Rusconi M, Zuffardi O.
|
| Eur J Hum Genet 16(8):897-905. Epub 2008 Feb 27. 2008
|
| 5 | DEL5QT, DUP5QD, TALL
|
| Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.
|
| Buysse K, Crepel A, Menten B, Pattyn F, Antonacci F, Veltman JA, Larsen LA, Tmer Z, de Klein A, van de Laar I, Devriendt K, Mortier G, Speleman F.
|
| J Med Genet 45(10):672-8. Epub 2008 Jul 15.
2008
|
| 6 | DUP5QD, DUP9QD, DUP5PD
|
| Pure subtelomeric microduplications as a cause of mental retardation.
|
| Ruiter E, Koolen D, Kleefstra T, Nillesen W, Pfundt R, de Leeuw N, Hamel B, Brunner H, Sistermans E, de Vries B.
|
| Clin Genet 72(4):362-368. 2007
|
| 7 | CRS2, MSX2, DUP5QD
|
| Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.
|
| Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B.
|
| Am J Med Genet A 143A(24):2937-2943 [Epub ahead of print] 2007
|
| 8 | MSX2, CRS2, DUP5QD
|
| Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis.
|
| Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI.
|
| Am J Med Genet A 143A(24):2931-2936 [Epub ahead of print] 2007
|
| 9 | DUP5Q35,FBXW11, DUP5QD
|
| Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
|
| Koolen DA, Herbergs J, Veltman JA, Pfundt R, van Bokhoven H, Stroink H, Sistermans EA, Brunner HG, Geurts van Kessel A, de Vries BB.
|
| J Hum Genet 51(8):721-6. Epub 2006 Jul 25. 2006
|
| 10 | DUP5QD, DUP5Q35
|
| The Hunter-McAlpine syndrome results from duplication 5q35-qter.
|
| Hunter AG, Dupont B, McLaughlin M, Hinton L, Baker E, Ads L, Haan E, Schwartz CE.
|
| Clin Genet 67(1):53-60. 2005
|
| 11 | DUP5QD
|
| Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting.
|
| Abuelo DN, Ahsanuddin AN, Mark HF.
|
| Am J Med Genet 94(5):392-9. 2000
|
| 12 | DUP5QD
|
| An unusually large 5q duplication in an adult female subject: spreading of inactivation and in vitro instability of the derivative Xp/5q chromosome.
|
| Rovescalli A, Ghidoni A.
|
| Ann Genet 32(4):235-40. 1989
|
| 13 | DUP5Q35, DUP5QD
|
| Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome.
|
| Curry CJ, Loughman WD, Francke U, Hall BD, Golbus MS, Derstine J, Epstein CJ.
|
| Clin Genet 15(5):454-61. 1979
|
| 14 | DUP5QD
|
| Partial duplication of the long arm of chromosome 5: a case due to balanced paternal translocation and review of the literature.
|
| Jones LA, Jordan DK, Taysi K, Strauss AW, Toth JK.
|
| Hum Genet 51(1):37-42. 1979
|