Citations for
1DELXPF, DELXPM
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.
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.
Am J Med Genet A 152A(7):1730-1734. [Epub ahead of print]PMID: 20578256 2010
2DCS, DELXPF, SHOX
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks.
Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.
Am J Med Genet A 152A(9):2230-5.PMID: 20683993 2010
3DELXPF, TS
Array comparative genomic hybridization analysis of heritable Xp deletion.
Purushothaman R, Gunturu SD, Anhalt H, Ten S, Friedman A, Pearlman A, Ostrer H.
Am J Med Genet A 149A(3):529-31. No abstract available. 2009
4DELXPF
The Xp contiguous deletion syndrome and autism.
Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F.
Am J Med Genet A 149A(6):1138-48. 2009
5DELXPF, DUP22Q13
A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).
Armour CM, McGowan-Jordan J, Lawrence SE, Bouchard A, Basik M, Allanson JE.
Clin Dysmorphol 17(1):23-26. 2008
6DELXPF
A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions.
Lachlan KL, Youings S, Costa T, Jacobs PA, Thomas NS.
Hum Genet 118(5):640-51. Epub 2005 Nov 8. 2006
7DELXPF, VCX2
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.
Chocholska S, Rossier E, Barbi G, Kehrer-Sawatzki H.
Am J Med Genet A 140(6):604-10. 2006
8DELXPF, TS
Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.
Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K.
J Clin Endocrinol Metab 86(11):5498-508. 2001
9GCX, SHOX, TS, DELXPF
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.
Adachi M, Tachibana K, Asakura Y, Muroya K, Ogata T.
Hum Genet 106(3):306-10. 2000
10TS, DELXPF
The Turner syndrome-associated neurocognitive phenotype maps to distal Xp.
Ross JL, Roeltgen D, Kushner H, Wei F, Zinn AR.
Am J Hum Genet 67(3):672-81. Epub 2000 Aug 8. 2000
11DELXPF,DELXPM, SHOX, STS, KAL1, OA1, ARSE
Molecular and cytogenetic analysis of familial Xp deletions.
Wandstrat AE, Conroy JM, Zurcher VL, Pasztor LM, Clark BA, Zackowski JL, Schwartz S.
Am J Med Genet 94(2):163-9. 2000
12DELXPF
Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome.
Massa G, Vanderschueren-Lodeweyckx M, Fryns JP.
Eur J Pediatr 151(12):893-4. 1992
13DELXPF, DELXQ
The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.
Therman E, Susman B.
Hum Genet 85(2):175-83. 1990