| 1 | DUPXP
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| Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.
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| Thorson L, Bryke C, Rice G, Artzer A, Schilz C, Israel J, Huber S, Laffin J, Raca G.
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| Am J Med Genet A 152A(4):904-15.
2010
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| 2 | DUPXP, DUPXPP
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| Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.
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| Hunter M, Bruno D, Amor DJ.
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| Am J Med Genet A 149A(8):1763-7. 2009
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| 3 | DUPXP, SHOX
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| A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequences.
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| Roos L, Brřndum Nielsen K, Tümer Z.
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| Am J Med Genet A 149A(12):2900-1. No abstract available.
2009
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| 4 | DSS, DUPXP, NR0B1
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| Sex reversal from functional disomy of Xp: prenatal and post-mortem findings.
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| Piccione M, Maresi E, Zollino M, Sanfilippo C, Seminara L, Neri G, Corsello G.
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| Am J Med Genet A 146A(20):2681-7.
2008
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| 5 | DUPXP
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| Characterization of interstitial Xp duplications in two families by tiling path array CGH.
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| Tzschach A, Chen W, Erdogan F, Hoeller A, Ropers HH, Castellan C, Ullmann R, Schinzel A.
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| Am J Med Genet A 146(2):197-203. 2008
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| 6 | DUPXP, DUPXPP
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| Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.
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| Monnot S, Giuliano F, Massol C, Fossoud C, Cossée M, Lambert JC, Karmous-Benailly H.
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| Am J Med Genet A 146A(10):1325-9. 2008
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| 7 | DUPXP
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| Prenatal diagnosis and prenatal imaging of a de novo 46,X,der(Y)t(X;Y)(p22.13;q11.23) leading to functional disomy for the distal end of the X chromosome short arm from Xp22.13 in a phenotypically male fetus with posterior fossa abnormalities.
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| Ghosh A, Higgins L, Larkins SA, Miller C, Ostojic N, Martin WL, Kilby MD.
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| Prenat Diagn 28(11):1068-1071. [Epub ahead of print]
2008
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| 8 | DUPXP, NR0B1
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| Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
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| Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A.
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| J Clin Endocrinol Metab 92(8):3305-13. Epub 2007 May 15. 2007
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| 9 | DUPXP, DUPXPP
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| Functional disomy of Xp: prenatal findings and postnatal outcome.
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| Kolomietz E, Godbole K, Winsor EJ, Stockley T, Seaward G, Chitayat D.
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| Am J Med Genet A 134(4):393-8. 2005
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| 10 | DUPXP
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| Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).
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| Sanlaville D, Vialard F, Thépot F, Vue-Droy L, Ardalan A, Nizard P, Corré A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite JL, Portnoď MF.
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| Am J Med Genet A 128A(3):325-30.
2004
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| 11 | SAT1, KFSD, DUPXP
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| Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
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| Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M.
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| Hum Genet 111(3):235-41. 2002
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| 12 | DUPXP, DUPXPP, DUPXQ28
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| Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome.
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| Kokalj Vokac N, Seme Ciglenecki P, Erjavec A, Zagradisnik B, Zagorac A.
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| Clin Genet 61(1):54-61. 2002
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| 13 | DUPXP
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| Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.
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| Portnoi MF, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, Chelly J, Taillemite JL.
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| Clin Genet 58(2):116-22. 2000
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| 14 | DUPXP
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| Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.
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| Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T.
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| Am J Med Genet 86(1):44-50. Review. 1999
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| 15 | DUPXP
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| Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: a familial case report and review of the literature.
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| Melaragno MI, Ramos MA, Brunoni D.
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| Ann Genet 41(4):189-94. Review. 1998
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| 16 | DUPXP
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| Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp.
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| Fritz B, Küster W, Orstavik KH, Naumova A, Spranger J, Rehder H.
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| Hum Genet 103(4):441-9. Review.
1998
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| 17 | DUPXP
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| Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.
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| Correa-Cerro LS, Rivera H, Vasquez AI.
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| J Med Genet 34(2):161-3.
1997
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| 18 | DSS, DUPXP, DUPXPP
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| Xp-duplications with and without sex reversal.
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| Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerena Júnior JC, Vogel W, Just W.
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| Hum Genet 97(1):79-86. Review. 1996
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| 19 | DSS, DUPXP
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| Sex reversal in a child with duplication of sex reversing locus on the short arm of the X chromosome (Xp).
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| Ito T, et al.
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| J Pediatr Endocrinol Metab 9 : 429-433. 1996
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| 20 | DUPXP
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| X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.
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| Hatchwell E, Robinson D, Crolla JA, Cockwell AE.
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| J Med Genet 33(3):216-20.
1996
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| 21 | DUPXP
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| Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.
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| Hatchwell E.
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| J Med Genet 33(3):177-83. Review.
1996
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| 22 | DUPXP
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| Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq.
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| Bardoni B, Floridia G, Guioli S, Peverali G, Anichini C, Cisternino M, Casalone R, Danesino C, Fraccaro M, Zuffardi O, et al.
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| Hum Genet 91(4):333-8. 1993
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| 23 | DSS, DUPXP, SRY
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| Sex reversal in a child with a 46,X,Yp+ karyotype : support for the existence of a gene(s), located in distal Xp, involved in testis formation.
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| Ogata T, et al.
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| J Med Genet 29 : 226-230. 1992
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| 24 | DUPXP, HMI
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| Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases.
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| Crolla JA, Gilgenkrantz S, de Grouchy J, Kajii T, Bobrow M.
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| Hum Genet 81(3):269-72. 1989
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