Partial duplication of the short arm of chromosome X

MedGen UID:: 1826027
•Concept ID:: C5679686
•: Cell or Molecular Dysfunction

Synonyms:	Partial duplication of chromosome Xp; partial duplication of chromosome Xp; partial duplication of the short arm of chromosome type X; partial duplication of the short arm of chromosome X; Partial trisomy of chromosome Xp; partial trisomy of chromosome Xp; Partial trisomy of the short arm of chromosome X; partial trisomy of the short arm of chromosome X

Monarch Initiative:	MONDO:0017009
Orphanet:	ORPHA263775

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPartial duplication of the short arm of chromosome X

Partial duplication of the short arm of chromosome X
- Chromosome Xp11.23-p11.22 duplication syndrome
- Xp22.13p22.2 duplication syndrome

Recent clinical studies

Therapy

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.

Monnot S, Giuliano F, Massol C, Fossoud C, Cossée M, Lambert JC, Karmous-Benailly H
Am J Med Genet A 2008 May 15;146A(10):1325-9. doi: 10.1002/ajmg.a.32238. PMID: 18412111

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.

Portnoï MF, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, Chelly J, Taillemite JL
Clin Genet 2000 Aug;58(2):116-22. doi: 10.1034/j.1399-0004.2000.580205.x. PMID: 11005144

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.

Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T
Am J Med Genet 1999 Sep 3;86(1):44-50. PMID: 10440827

See all (3)

Prognosis

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK
Am J Med Genet A 2015 Dec;167A(12):3091-5. Epub 2015 Jul 21 doi: 10.1002/ajmg.a.37261. PMID: 26198585 Free PMC Article

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.

Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, Fellous M, McElreavey K
Hum Genet 1997 May;99(5):648-52. doi: 10.1007/s004390050422. PMID: 9150734

See all (2)

Clinical prediction guides

Trisomy of the short stature homeobox-containing gene (SHOX) due to duplication/deletion of the X chomosome: clinical implications on the stature.

Del Rey G, Jasper H, Bengolea SV, Boywitt A, De Bellis R, Heinrich JJ
Horm Res Paediatr 2010;74(4):297-304. Epub 2010 Aug 5 doi: 10.1159/000309418. PMID: 20689243

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.

Monnot S, Giuliano F, Massol C, Fossoud C, Cossée M, Lambert JC, Karmous-Benailly H
Am J Med Genet A 2008 May 15;146A(10):1325-9. doi: 10.1002/ajmg.a.32238. PMID: 18412111

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.

Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, Fellous M, McElreavey K
Hum Genet 1997 May;99(5):648-52. doi: 10.1007/s004390050422. PMID: 9150734

See all (3)

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Partial duplication of the short arm of chromosome X

Term Hierarchy

Recent clinical studies

Therapy

Prognosis

Clinical prediction guides

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