High risk of malignancy in mosaic variegated aneuploidy syndrome

Details

Serval ID
serval:BIB_58A95A61018D
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
High risk of malignancy in mosaic variegated aneuploidy syndrome
Journal
American Journal of Medical Genetics
Author(s)
Jacquemont  S., Boceno  M., Rival  J. M., Mechinaud  F., David  A.
ISSN
0148-7299
Publication state
Published
Issued date
04/2002
Peer-reviewed
Oui
Volume
109
Number
1
Pages
17-21; discussion 16
Notes
Case Reports
Journal Article
Review --- Old month value: Apr 15
Abstract
Fourteen cases of mosaic variegated aneuploidy (MVA) syndrome have been reported in the last 10 years. The phenotype of this rare condition has been quite consistent: severe microcephaly, growth deficiency, mild physical anomalies, and mental retardation. We describe here a young boy in whom MVA syndrome is associated to myelodysplasia with a monosomy 7 bone marrow clone. At the age of 3 years, myelodysplasia progressed to an acute lymphoblastic leukemia, and the patient died soon after. Several syndromes with short stature and severe microcephaly, such as the Seckel and Nijmegen syndromes, comprise hematological findings and chromosome instability. However, chromosome instability was not confirmed in our patient. MVA with hematological findings has not been reported before, but 3 patients of 14 (21%) have developed a malignancy (rhabdomyosarcoma, acute lymphoblastic leukemia, and nephroblastoma). Therefore, we propose that MVA is a condition predisposing to neoplasia.
Keywords
Abnormalities, Multiple/genetics/pathology *Aneuploidy Fatal Outcome Female Growth Disorders/pathology Humans Male Microcephaly/pathology Mosaicism/*genetics Neural Tube Defects/pathology Syndrome
Pubmed
Web of science
Create date
28/02/2008 10:42
Last modification date
20/08/2019 14:12
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