High risk of malignancy in mosaic variegated aneuploidy syndrome
Détails
ID Serval
serval:BIB_58A95A61018D
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
High risk of malignancy in mosaic variegated aneuploidy syndrome
Périodique
American Journal of Medical Genetics
ISSN
0148-7299
Statut éditorial
Publié
Date de publication
04/2002
Peer-reviewed
Oui
Volume
109
Numéro
1
Pages
17-21; discussion 16
Notes
Case Reports
Journal Article
Review --- Old month value: Apr 15
Journal Article
Review --- Old month value: Apr 15
Résumé
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.
Mots-clé
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
Création de la notice
28/02/2008 11:42
Dernière modification de la notice
20/08/2019 15:12