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Can I read Microcephaly Is Not Mandatory for the Diagnosis of Mosaic Variegated Aneuploidy Syndrome on EtoBox?
Microcephaly Is Not Mandatory for the Diagnosis of Mosaic Variegated Aneuploidy Syndrome by P. Callier; L. Faivre; V. Cusin; N. Marle; C. Thauvin‐Robinet; D. Sandre; T. Rousseau; P. Sagot; E. Lacombe; V. Faber; F. Mugneret is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Microcephaly Is Not Mandatory for the Diagnosis of Mosaic Variegated Aneuploidy Syndrome about?
## 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 fibroblastes 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. © 2005 Wiley‐Liss, Inc.
Who reads Microcephaly Is Not Mandatory for the Diagnosis of Mosaic Variegated Aneuploidy Syndrome?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- P. Callier; L. Faivre; V. Cusin; N. Marle; C. Thauvin‐Robinet; D. Sandre; T. Rousseau; P. Sagot; E. Lacombe; V. Faber; F. Mugneret
- Publisher
- Wiley
- Published
- 2005
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)