References
Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication. Guilherme R, Guimiot F, Tabet AC, Khung-Savatovsky S, Gauthier E, Nouchy M, Benzacken B, Verloes A, Oury JF, Delezoide AL, Aboura A. Am J Med Genet A. 2009 Dec;149A(12):2892-7. No abstract available. PMID: #19938079#
Home > D. General pathology > Genetic and developmental anomalies > Chromosomal diseases > Regional duplications
Regional duplications
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2p14-p16 duplication
7 February 2010 -
dup(2)(q33.1q35)
8 July 2008See also
partial trisomy 2q
References
Sebold, C. D. et al. Partial trisomy 2q: Report of a patient with dup (2)(q33.1q35), Am J Med Genet, 134A: 80-83, 2005. -
regional duplications
23 June 2008segmental duplications
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Xq12q13.1 duplication
16 June 2008Xq12q13.1 duplication
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dup(22)(q13.1q13.2)
16 June 2008duplication at 22q13
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dup (1)(q11q44)
26 March 2008Synopsis
extensive mineralization of the extraplacental membranes
bilateral nephromegaly
diffusely hyperplastic perilobar nephroblastomatosis
References
Christiansen LR, Lage JM, Wolff DJ, Pai GS, Harley RA. Mosaic duplication 1(q11q44) in an infant with nephroblastomatosis and mineralization of extraplacental membranes. Pediatr Dev Pathol. 2005 Jan-Feb;8(1):115-23. PMID: (...) -
dup(17)(p11.2p11.2)
29 April 2007Potocki-Lupski syndrome, dup(17)(p11.2p11.2)
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mosaic duplication 1(q11q44)
28 January 2007Synopsis
extensive mineralization of the extraplacental membranes
bilateral nephromegaly
diffusely hyperplastic perilobar nephroblastomatosis
See also
partial trisomy 1q
References
Mark HF, Wyandt H, Pan A, Milunsky JM. Constitutional partial 1q trisomy mosaicism and Wilms tumor. Cancer Genet Cytogenet. 2005 Oct 15;162(2):166-71. PMID: #16213366#
Christiansen LR, Lage JM, Wolff DJ, Pai GS, Harley RA. Mosaic duplication 1(q11q44) in an infant with nephroblastomatosis and (...) -
dup(22)(q11)
30 December 2006Cat eye syndrome (CAS), Schmid-Fraccaro syndrome, chromsome 22 partial tetrasomy.