title: Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.
abstract: The phenotype of mosaic variegated aneuploidy (MVA) syndrome is characterized by severe microcephaly, growth deficiency, mental retardation, and mild physical anomalies. The MVA syndrome is associated with mosaicism for several different aneuploidies involving many different chromosomes with or without premature centromere division (PCD). To date 28 cases of MVA syndrome have been reported. We report the first case of MVA syndrome without microcephaly. The clinical features in our patient included craniofacial dysmorphic features, growth retardation, and developmental delay. Cytogenetics analyses and FISH studies showed multiple aneuploidy with trisomy 18, 19, and 8, respectively in blood lymphocyte and fibroblasts without PCD. This case is compared with the other of MVA syndrome previously reported in literature. From this case report, we suggest that microcephaly is not mandatory for the diagnosis of MVA syndrome.
authors.affiliation: Département de Génétique, Laboratoire de Cytogénetique, CHU Le Bocage, Boulevard Marechal de Lattre de Tassigny 2, Dijon 21034, France. patrick.callier@chu-dijon.fr
authors.forename: P
authors.initials: P
authors.lastname: Callier
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: V
authors.initials: V
authors.lastname: Cusin
authors.forename: N
authors.initials: N
authors.lastname: Marle
authors.forename: C
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: D
authors.initials: D
authors.lastname: Sandre
authors.forename: T
authors.initials: T
authors.lastname: Rousseau
authors.forename: P
authors.initials: P
authors.lastname: Sagot
authors.forename: E
authors.initials: E
authors.lastname: Lacombe
authors.forename: V
authors.initials: V
authors.lastname: Faber
authors.forename: F
authors.initials: F
authors.lastname: Mugneret
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000782:Aneuploidy; D019465:Craniofacial Abnormalities; D002658:Developmental Disabilities / Q000473:pathology*; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000473:pathology; D013577:Syndrome