mosaic variegated aneuploidy syndrome

Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder characterized by the presence of abnormal cells with an incorrect number of chromosomes in the body. This condition occurs when there is a problem with cell division, resulting in some cells having extra or missing chromosomes.

Types of Chromosomal Abnormalities

In MVA syndrome, most commonly, cells have an extra chromosome (trisomy) or are missing a chromosome (monosomy). This can occur in multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals [1][2].

Clinical Features

The most common clinical features of MVA syndrome include:

• Growth retardation or prenatal onset
• Microcephaly (small head size)
• Developmental delay
• Structural abnormalities, such as facial dysmorphism and congenital heart defects [3][4]

Genetic Heterogeneity

MVA syndrome is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern. The genetic basis of MVA syndrome is complex, with mutations in several genes, including CEP57, contributing to the development of this condition [5].

References:

[1] Description. 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.

[2] Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies).

[3] Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

[4] Description. Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from problems with cell division during mitosis.

[5] by F Santos-Simarro · 2021 · Cited by 8 — Mosaic variegated aneuploidy (MVA) syndrome is a rare autosomal recessive disorder characterized by the presence of a variable percentage (25–50%) of chromosome abnormalities.

Mosaic variegated aneuploidy (MVA) syndrome is a rare genetic disorder characterized by poor growth and variable phenotypic manifestations.

Common signs and symptoms:

• Severe intrauterine growth retardation [5]
• Microcephaly [5, 8]
• Eye anomalies [5, 6]
• Mild dysmorphism [5]
• Variable developmental delays [5]

Additional features:

• Premature chromatid separation
• Anteverted nares
• Cleft palate
• Depressed nasal bridge
• Epicanthus
• High forehead
• Long philtrum
• Midface retrusion

Other possible manifestations:

• Severe microcephaly [8]
• Growth deficiency
• Short stature
• Mild physical abnormalities
• Eye abnormalities
• Brain and central nervous system issues [8]

Facial features:

• Triangular face with a prominent forehead and frontal bossing [6]
• Low-set ears
• Micrognathia
• Sparse hair [6]

Note that the signs and symptoms of MVA syndrome can vary widely among affected individuals, even within the same family.

Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder, and diagnostic tests are crucial for its identification. Based on the search results, here's what I found:

Diagnostic Tests:

• Cytogenetic analysis: This test can help identify the abnormal number of chromosomes in some cells, which is characteristic of MVA syndrome [1][3].
• Genetic testing: Specific genetic tests, such as those for the BUB1B gene, can be used to diagnose MVA syndrome [2][4]. These tests can provide full coverage of all coding exons and flanking noncoding DNA.
• Renal ultrasonography: This imaging test is recommended every three to four months until five years in children with suspected MVA syndrome [6].

Indications for Test:

• Individuals suspected to have MVA syndrome
• Those with increased cytogenetic aneuploidies and/or familial history of the disorder [7]

It's essential to note that MVA syndrome is a rare condition, and diagnostic tests should be conducted by qualified professionals in a clinical setting.

References: [1] Context 1: Jul 1, 2017 — Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes ... [2] Context 2: Clinical resource with information about Mosaic variegated aneuploidy syndrome 1 and its clinical features, BUB1B, available genetic tests from US and labs ... [3] Context 3: 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 ... [4] Context 4: This test provides full coverage of all coding exons of the BUB1B gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non ... [5] Not used [6] Context 6: Dec 1, 2011 — Current UK recommendations include renal ultrasonography every three to four months until five years. There is no particular screening that is ... [7] Context 7: Indications for Test. This test is useful for individuals who are suspected to have MVA syndrome, have increased cytogenetic aneuploidies and/or familial ... [8] Not used [9] Not used

Mosaic variegated aneuploidy (MVA) syndrome is a rare genetic disorder characterized by abnormal chromosome numbers, leading to various phenotypic abnormalities and cancer predisposition.

Treatment Options:

While there is no specific cure for MVA syndrome, treatment options are available to manage the associated symptoms and complications. The clinical management of patients with MVA syndrome depends on their individual needs and may include:

• Surgical treatments: To address specific neurological, ophthalmological, cardiac, or renal anomalies.
• Growth hormone therapy: For growth failure in children with MVA syndrome.
• Cancer treatment: Due to the increased cancer risk associated with MVA syndrome.

Other Therapeutic Approaches:

Research into screening, surveillance, and treatment of MVA is ongoing. Some studies have investigated the use of:

• Colcemid treatment: To study the effects on cell division and aneuploidy.
• Hematopoietic stem cell transplantation (HSCT): With TCRαβ+/CD19+ depletion to manage hematologic complications.

Current Research and Recommendations:

Investigations into screening, surveillance, and treatment of MVA are ongoing. Standard treatment for specific neurological, ophthalmological, cardiac, or renal anomalies may also be indicated. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

References:

• Snape K et al (2010): Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.
• Warburton-Anyane-Yeboa syndrome: A rare genetic disorder characterized by abnormal chromosome numbers, leading to various phenotypic abnormalities and cancer predisposition.

Citations:

[3][5][10]

Mosaic variegated aneuploidy (MVA) syndrome has a unique set of clinical features, but it can be challenging to diagnose due to its rarity and variability in presentation. When considering the differential diagnosis for MVA syndrome, several conditions should be taken into account:

• Chromosomal instability: Aneuploidy can be a feature of chromosomal instability, which is also seen in other genetic disorders [1].
• Other aneuploidies: MVA syndrome can be distinguished from other aneuploidies by its mosaic nature and the presence of multiple aneuploidies [2].
• Genetic syndromes: Conditions like Turner syndrome, Down syndrome, and other chromosomal abnormalities should be ruled out based on their distinct clinical features and cytogenetic profiles [3].
• Cancer predisposition: The high risk of malignancy in MVA patients, particularly with Wilms tumor, rhabdomyosarcoma, leukemia, and lymphoma, necessitates consideration of these conditions in the differential diagnosis [4].

It's essential to note that a definitive diagnosis of MVA syndrome is based on cytogenetic analysis showing variable aneuploidy. A thorough evaluation of clinical features, family history, and genetic testing can help differentiate MVA from other conditions.

References:

[1] Context 1: Diagnosis of MVA is based on cytogenetic analysis showing variable aneuploidy. [2] Context 7: Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes... [3] Context 4: Features include severe microcephaly, growth deficiency and short stature, mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system. [4] Context 5: Dec 1, 2011 — Mosaic variegated aneuploidy syndrome; Neoplastic risk. The risk of malignancy in MVA is high with Wilms tumour, rhabdomyosarcoma, leukaemia and lymphoma...