1 | 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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2 | DCS, DELXPF, SHOX
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| Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks.
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| Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.
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| Am J Med Genet A 152A(9):2230-5.PMID: 20683993 2010
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3 | DELXPF, TS
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| Array comparative genomic hybridization analysis of heritable Xp deletion.
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| Purushothaman R, Gunturu SD, Anhalt H, Ten S, Friedman A, Pearlman A, Ostrer H.
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| Am J Med Genet A 149A(3):529-31. No abstract available.
2009
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4 | DELXPF
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| The Xp contiguous deletion syndrome and autism.
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| Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F.
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| Am J Med Genet A 149A(6):1138-48.
2009
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5 | DELXPF, DUP22Q13
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| A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).
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| Armour CM, McGowan-Jordan J, Lawrence SE, Bouchard A, Basik M, Allanson JE.
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| Clin Dysmorphol 17(1):23-26. 2008
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6 | DELXPF
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| A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions.
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| Lachlan KL, Youings S, Costa T, Jacobs PA, Thomas NS.
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| Hum Genet 118(5):640-51. Epub 2005 Nov 8. 2006
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7 | DELXPF, VCX2
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| Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.
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| Chocholska S, Rossier E, Barbi G, Kehrer-Sawatzki H.
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| Am J Med Genet A 140(6):604-10. 2006
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8 | DELXPF, TS
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| Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.
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| Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K.
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| J Clin Endocrinol Metab 86(11):5498-508. 2001
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9 | GCX, SHOX, TS, DELXPF
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| Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.
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| Adachi M, Tachibana K, Asakura Y, Muroya K, Ogata T.
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| Hum Genet 106(3):306-10. 2000
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10 | TS, DELXPF
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| The Turner syndrome-associated neurocognitive phenotype maps to distal Xp.
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| Ross JL, Roeltgen D, Kushner H, Wei F, Zinn AR.
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| Am J Hum Genet 67(3):672-81. Epub 2000 Aug 8. 2000
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11 | 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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12 | DELXPF
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| Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome.
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| Massa G, Vanderschueren-Lodeweyckx M, Fryns JP.
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| Eur J Pediatr 151(12):893-4. 1992
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13 | DELXPF, DELXQ
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| The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.
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| Therman E, Susman B.
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| Hum Genet 85(2):175-83. 1990
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