| 1 | DELXP22, DELXPM, PTCHD1
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| Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
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| Filges I, Röthlisberger B, Blattner A, Boesch N, Demougin P, Wenzel F, Huber A, Heinimann K, Weber P, Miny P.
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| Clin Genet 79(1):79-85. doi: 10.1111/j.1399-0004.2010.01590.x. Epub 2010 Nov 22.PMID: 21091464 2011
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| 2 | DELXPF, DELXPM
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| Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.
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| Bukvic N, Carri VD, Di Cosola ML, Pustorino G, Cesarano C, Chetta M, Santacroce R, Sarno M, Sessa F, Longo V, Novelli A, Gentile M, Margaglione M.
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| Am J Med Genet A 152A(7):1730-1734. [Epub ahead of print]PMID: 20578256 2010
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| 3 | DELXPM
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| Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.
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| van Steensel MA, Vreeburg M, Engelen J, Ghesquiere S, Stegmann AP, Herbergs J, van Lent J, Smeets B, Vles JH.
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| Am J Med Genet A 146A(22):2944-9.
2008
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| 4 | DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.
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| Melichar VO, Guth S, Hellebrand H, Meindl A, Hardt K, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M.
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| Am J Med Genet A 143(2):135-41. 2007
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| 5 | DELXPM
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| First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.
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| Dupont C, Lebbar A, Teinturier C, Baverel F, Viot G, Le Tessier D, Le Bozec J, Cuisset L, Dupont JM.
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| Am J Med Genet A 143(11):1236-43. 2007
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| 6 | DELXPF,DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| Molecular and cytogenetic analysis of familial Xp deletions.
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| Wandstrat AE, Conroy JM, Zurcher VL, Pasztor LM, Clark BA, Zackowski JL, Schwartz S.
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| Am J Med Genet 94(2):163-9. 2000
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| 7 | DELXPM,SSDI,STS
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| A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects.
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| Paige DG, et al.
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| Br J Dermatol 131 : 622-629. 1994
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| 8 | DELXPM,KAL1,SSDI,STS
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| A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm.
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| Lee WC, et al.
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| Genomics 18 : 1-6. 1993
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| 9 | DELXPM,GPR143
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| Xp22.3 microdeletions associated with 1) ocular albinism + ichthyosis and 2) nystagmus + Rud syndrome : approximation of breakpoints, estimation of deletion size, and deletion analysis by PFGE.
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| Schnur RE, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1074-1075. 1989
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| 10 | ARSE,CDPX1,DELXPM,KAL1,MRX2,OA1,SHOX,SSDI,STS
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| Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
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| Ballabio A, et al.
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| Proc Natl Acad Sci U S A 86 : 10001-10005. 1989
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| 11 | CDPX1,DELXPM,SSDI,STS
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| X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation : DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
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| Ballabio A, et al.
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| Clin Genet 34 : 31-37. 1988
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| 12 | DELXPM,HHG,KAL1,SSDI,STS
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| X-linked ichthyosis, hypogonadotropic hypogonadism, and hyposmia in two male siblings.
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| Fidone GS, et al.
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| Am J Hum Genet 41 : A58. 1987
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| 13 | STS, DELXPM, KAL1, SSDI, XG
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| X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) : linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.
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| Ballabio A, et al.
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| Hum Genet 72 : 237-240. 1986
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