Sex chromosome anomalies

Common Name(s)

Sex chromosome anomalies, X and Y chromosome variations

Sex chromosome anomalies are a group of genetic disorders caused by a gain, loss, or abnormality of the X or Y chromosome (sex chromosomes). Normally, a female has two X chromosomes for her sex chromosome pair (XX), while a male has an X chromosome and a Y chromosome for his sex chromosome pair (XY). Female sex chromosome anomalies typically affect the number of X chromosomes a female has, while male sex chromosome anomalies can affect the X chromosome, the Y chromosome, or both.

Common female sex chromosome anomaly disorders include Turner syndrome, where only one copy of the X chromosome is present (X0), and multiple X chromosome syndromes, such as triple X syndrome (XXX), XXXX syndrome or XXXXX syndrome. Common male sex chromosome anomaly disorders include Klinefelter syndrome, where an extra X chromosome is present in a male (XXY), and XYY syndrome. Features of sex chromosome anomaly syndromes vary and depend on the specific syndrome. In general, sex chromosome anomaly syndromes have features that are less severe than other chromosome anomaly syndromes, such as Down syndrome, which is due to three copies of chromosome 21, or trisomy 18, which is due to three copies of chromosome 18.

In most cases, sex chromosome anomalies are random (sporadic) and not inherited from an affected parent. All sex chromosome anomaly syndromes can be diagnosed with a chromosome analysis, called a karyotype. Karyotypes show the number, size, and shape of the chromosomes in the individual’s cells. A karyotype can be created by using a blood sample from a child or can be created before a baby is born (prenatally) by using a procedure to collect a sample of the baby’s cells, such as chorionic villus sampling (CVS) or amniocentesis. You can learn more about each sex chromosome anomaly syndrome in their own separate disease description. Support groups are available for more information and support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sex chromosome anomalies" for support, advocacy or research.

Klinefelter Syndrome & Associates, Inc.

KS&A’s mission is to help individuals with one or more extra X and/or Y chromosomes and their families lead fuller and more productive lives. http://www.genetic.org/About/MissionStatement.aspx

Last Updated: 1 Nov 2014

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The Focus Foundation

The Focus Foundation is dedicated to helping children and families affected by X & Y Variations, Dyslexia, and/or Developmental Dyspraxia. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential.

Last Updated: 31 Mar 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sex chromosome anomalies" for support, advocacy or research.

Klinefelter Syndrome & Associates, Inc.

KS&A’s mission is to help individuals with one or more extra X and/or Y chromosomes and their families lead fuller and more productive lives. http://www.genetic.org/About/MissionStatement.aspx

http://www.genetic.org

Last Updated: 1 Nov 2014

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The Focus Foundation

The Focus Foundation is dedicated to helping children and families affected by X & Y Variations, Dyslexia, and/or Developmental Dyspraxia. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential.

http://www.thefocusfoundation.org/

Last Updated: 31 Mar 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sex chromosome anomalies" returned 6 free, full-text research articles on human participants. First 3 results:

The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies.
 

Author(s): Andréa Trevas Maciel-Guerra, Juliana De Paulo, Ana Paula Santos, Guilherme Guaragna-Filho, Juliana Gabriel Ribeiro Andrade, Adriana Aparecida Siviero-Miachon, Angela Maria Spinola-Castro, Gil Guerra-Júnior

Journal: Arq Bras Endocrinol Metabol. 2012 Nov;56(8):545-51.

 

FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female ...

Last Updated: 8 Jan 2013

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Association between venous leg ulcers and sex chromosome anomalies in men.
 

Author(s): Cornelia Gattringer, Christine Scheurecker, Reinhard Höpfl, Hansgeorg Müller

Journal: Acta Derm. Venereol.. 2010 Nov;90(6):612-5.

 

We report here two cases of men, aged 46 and 23 years, with refractory chronic venous leg ulcers in association with sex chromosome aberrations: one with a 47,XXY/48,XXXY karyotype (Klinefelter syndrome) and the other with a 47,XYY karyotype (Jacob syndrome). In both patients, the ...

Last Updated: 8 Nov 2010

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Sex chromosome anomalies in childhood onset schizophrenia: an update.
 

Author(s): K Eckstrand, A M Addington, T Stromberg, B Merriman, R Miller, P Gochman, R Long, A Dutra, Z Chen, P Meltzer, S F Nelson, J L Rapoport

Journal: Mol. Psychiatry. 2008 Oct;13(10):910-1.

 

Last Updated: 18 Sep 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sex chromosome anomalies" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

High Risk Multiple Gestation Study
 

Status: Recruiting

Condition Summary: Trisomy 13; Trisomy 18; Trisomy 21; Sex Chromosome Abnormalities

 

Last Updated: 12 Apr 2017

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Multiple Gestation Study
 

Status: Recruiting

Condition Summary: Trisomy 13; Trisomy 18; Trisomy 21; Sex Chromosome Abnormalities

 

Last Updated: 12 Apr 2017

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Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
 

Status: Recruiting

Condition Summary: Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities; Microdeletion Syndromes

 

Last Updated: 21 Sep 2017

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