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Disease Profile
Chromosome Xq duplication
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Duplication Xq; Trisomy Xq; Xq duplication;
Categories
Chromosome Disorders
Summary
Symptoms
Hypotonia - Feeding issues as an infant
- Brain abnormalities
- Failure to thrive
Developmental delay Intellectual disability - Speech/language delay and other difficulties with communication
- Frequent infections
Short stature Microcephaly (unusually small head)- Craniofacial abnormalities
- Abnormal development of reproductive
organs - Dysfunction of the endocrine system
Seizures
Many females with this duplication do not have any symptoms or are only affected with short stature. However, some may be just as severely affected as males with the condition.[2][3]
Cause
Scientists suspect that the features seen in people affected by this condition are caused by the duplication and/or disruption of certain genes found on Xq. The consequences of over-expression of many of the genes located in this region are not well understood. However, there are three specific genes that are fairly well characterized. The duplication of a particular gene, MECP2, may be responsible for many of the signs and symptoms found in affected people. An extra copy of the MECP2 gene is often associated with moderate to severe
Diagnosis
Karyotype a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large duplications.- FISH a laboratory technique that is used to detect and locate a specific
DNA sequence on a chromosome. During FISH, a chromosome is exposed to a smallDNA sequence called aprobe that has a fluorescentmolecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for duplications that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a duplication of a specific region of Xq since a diagnosis can only be made if the probe binds the duplicated sequence. - Array CGH a technology that detects duplications that are too small to be seen on karyotype.
Treatment
Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: [email protected]
Website: https://www.rarechromo.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Xq28 duplications is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about Xq28 duplications.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome Xq duplication. Click on the link to view a sample search on this topic.
References
- Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Am J Med Genet A. June 2005; 135(3):308-313. https://www.ncbi.nlm.nih.gov/pubmed/15887264.
- Armstrong L, McGowan-Jordan J, Brierley K, Allanson JE. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. Am J Med Genet A. January 2003; 116A(1):71-76. https://www.ncbi.nlm.nih.gov/pubmed/12476455.
- Donnelly DE1, Jones J, McNerlan SE, McGrattan P, Humphreys M, McKee S.. Growth retardation, developmental delay and dysmorphic features in a girl with a partial duplication of Xq. Clin Dysmorphol. April 2011; 20(2):82-85. https://www.ncbi.nlm.nih.gov/pubmed/21326093.
- Sanlaville D, Schluth-Bolard C, Turleau C. Distal Xq duplication and functional Xq disomy. Orphanet J Rare Dis. February 2009; 4:4. https://www.ncbi.nlm.nih.gov/pubmed/19232094.
- X chromosome. Genetics Home Reference. January 2012; https://ghr.nlm.nih.gov/chromosome/X.
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