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Clinical, cytogenetic and molecular study of a case of ring chromosome 10.
Mol Cytogenet
April 2015
Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių st. 2, LT-08661 Vilnius, Lithuania ; Centre for Medical Genetics, Vilnius University Hospital Santariki Klinikos, Vilnius, Lithuania.
Ring chromosome 10 is a rare cytogenetic finding. Only a few cases with molecular cytogenetic definition have been reported. We report here on a child with a ring chromosome 10, which is associated with prenatal and postnatal growth retardation, microcephaly, dysmorphic features, hypotonia, heart defect, severe pes equinovarus, and bronchial asthma.
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