title: High risk of malignancy in mosaic variegated aneuploidy syndrome.
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.
authors.affiliation: Unité de génétique clinique, Service de génétique médicale Hôpital mère enfant, Nantes, France. acseb@infonie.fr
authors.forename: Sébastien
authors.initials: S
authors.lastname: Jacquemont
authors.forename: Michelle
authors.initials: M
authors.lastname: Bocéno
authors.forename: Jean Marie
authors.initials: JM
authors.lastname: Rival
authors.forename: Françoise
authors.initials: F
authors.lastname: Méchinaud
authors.forename: Albert
authors.initials: A
authors.lastname: David
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000782:Aneuploidy; D017809:Fatal Outcome; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000473:pathology; D009030:Mosaicism / Q000235:genetics*; D009436:Neural Tube Defects / Q000473:pathology; D013577:Syndrome