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Learn About Mosaic Variegated Aneuploidy Syndrome

What is the definition of Mosaic Variegated Aneuploidy Syndrome?

Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.

What are the causes of Mosaic Variegated Aneuploidy Syndrome?

BUB1B gene mutations cause MVA syndrome type 1, CEP57 gene mutations cause MVA syndrome type 2, and TRIP13 gene mutations cause the other form of MVA syndrome. Some people with MVA syndrome do not have mutations in any of these genes. Other genes that have not been identified are likely also involved in the condition.

How prevalent is Mosaic Variegated Aneuploidy Syndrome?

MVA syndrome is a rare condition. Its prevalence is unknown.

Is Mosaic Variegated Aneuploidy Syndrome an inherited disorder?

All types of MVA syndrome are inherited in an autosomal recessive pattern, which means both copies of the BUB1B, CEP57, or TRIP13 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Mosaic Variegated Aneuploidy Syndrome Local Doctors?
Internal Medicine
Internal Medicine

Imc-Diagnostic And Medical Clinic LLC

5 Mobile Infirmary Cir, Suite G805, 
Mobile, AL 
 (52.9 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Christopher Gamard is an Internal Medicine provider in Mobile, Alabama. Dr. Gamard and is rated as an Experienced provider by MediFind in the treatment of Mosaic Variegated Aneuploidy Syndrome. His top areas of expertise are Deep Vein Thrombosis, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, Endoscopy, and Gastrostomy. Dr. Gamard is currently accepting new patients.

Hematology Oncology | Hematology | Oncology
Hematology Oncology | Hematology | Oncology

University Of Alabama Health Services Foundation, PC

619 19th St S, 
Birmingham, AL 
 (175.2 mi)
Experience:
8+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Syed Hussaini is a Hematologist Oncology specialist and a Hematologist in Birmingham, Alabama. Dr. Hussaini has been practicing medicine for over 8 years and is rated as an Advanced provider by MediFind in the treatment of Mosaic Variegated Aneuploidy Syndrome. His top areas of expertise are Mosaic Variegated Aneuploidy Syndrome, Lung Cancer, Pericarditis, and Osteotomy. Dr. Hussaini is currently accepting new patients.

 
 
 
 
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The East Alabama Health Care Authority

2375 Champions Blvd, Suite 102, 
Auburn, AL 
 (154.2 mi)
Languages Spoken:
English
Accepting New Patients

Amanda Belsterling is a Neurologist in Auburn, Alabama. Dr. Belsterling and is rated as an Experienced provider by MediFind in the treatment of Mosaic Variegated Aneuploidy Syndrome. Her top areas of expertise are Parkinson's Disease, Migraine, Cerebellar Multiple System Atrophy, and Epilepsy. Dr. Belsterling is currently accepting new patients.

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Who are the sources who wrote this article ?

Published Date: July 01, 2017
Published By: National Institutes of Health