Ann Genet. 2003 Oct-Dec;46(4):479-81.

Two 48,XXYY patients: clinical, cytogenetic and molecular aspects.

Zelante L, Piemontese MR, Francioli G, Calvano S.

Source

Medical Genetics Service, IRCCS-CSS Hospital, 71013 San Giovanni Rotondo (Fg), Italy. zelante@operapadrepio.it

Abstract

Two 48,XXYY males, a young and an adult patient, have been clinically and molecularly analysed. Clinical findings seem less severe in the young patient. This clinical difference could be mainly due to the age of the younger patient or, alternatively, the different pattern of X-inactivation observed in the two patients could play a role in the degree of the clinical manifestations.

PMID:: 14659786; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

Case Reports

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY. [Am J Med Genet A. 2007]
Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY.
Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM Jr. Am J Med Genet A. 2007 Jun 1; 143A(11):1198-203.
XXYY syndrome with schizophrenia: implications for genetic research in psychotic spectrum disorders. [Aust N Z J Psychiatry. 2007]
XXYY syndrome with schizophrenia: implications for genetic research in psychotic spectrum disorders.
Rege S, Winter K. Aust N Z J Psychiatry. 2007 Oct; 41(10):854-5.
Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. [Dev Disabil Res Rev. 2009]
Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.
Visootsak J, Graham JM Jr. Dev Disabil Res Rev. 2009; 15(4):328-32.
Review Klinefelter syndrome and other sex chromosomal aneuploidies. [Orphanet J Rare Dis. 2006]
Review Klinefelter syndrome and other sex chromosomal aneuploidies.
Visootsak J, Graham JM Jr. Orphanet J Rare Dis. 2006 Oct 24; 1:42. Epub 2006 Oct 24.
Review Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. [Int J Androl. 2005]
Review Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature.
Douet-Guilbert N, Bris MJ, Amice V, Marchetti C, Delobel B, Amice J, Braekeleer MD, Morel F. Int J Androl. 2005 Dec; 28(6):372-9.

See reviews... See all...

Cited by 4 PubMed Central articles

Review 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. [Acta Paediatr. 2011]
Review 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. Acta Paediatr. 2011 Jun; 100(6):851-60. Epub 2011 Apr 8.
48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis. [Case Report Med. 2010]
48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.
Zantour B, Sfar MH, Younes S, Alaya W, Kamoun M, Mkaouar E, Jerbi S. Case Report Med. 2010; 2010. Epub 2010 Aug 17.
48,XXYY in a General Adult Psychiatry Department. [Psychiatry (Edgmont). 2010]
48,XXYY in a General Adult Psychiatry Department.
Borja-Santos N, Trancas B, Santos Pinto P, Lopes B, Gamito A, Almeida S, Ferreira B, Luengo A, Vieira C, Martinho J, et al. Psychiatry (Edgmont). 2010 Mar; 7(3):32-6.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Two 48,XXYY patients: clinical, cytogenetic and molecular aspects.
Two 48,XXYY patients: clinical, cytogenetic and molecular aspects.
Ann Genet. 2003 Oct-Dec ;46(4):479-81.

PubMed
A molecular view of plant centromeres.
A molecular view of plant centromeres.
Trends Plant Sci. 2003 Dec ;8(12):570-5.

PubMed
TPR proteins: the versatile helix.
TPR proteins: the versatile helix.
Trends Biochem Sci. 2003 Dec ;28(12):655-62.

PubMed
Individual differences in diffuse noxious inhibitory controls (DNIC): associatio...
Individual differences in diffuse noxious inhibitory controls (DNIC): association with clinical variables.
Pain. 2003 Dec ;106(3):427-37.

PubMed
Nutrition and breast cancer.
Nutrition and breast cancer.
Breast. 2003 Dec ;12(6):412-6.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: