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Mol Cytogenet. 2015 Apr 21;8:29. doi: 10.1186/s13039-015-0124-9. eCollection 2015.

Clinical, cytogenetic and molecular study of a case of ring chromosome 10.

Author information

1
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.
2
Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių st. 2, LT-08661 Vilnius, Lithuania.
3
Centre for Medical Genetics, Vilnius University Hospital Santariki Klinikos, Vilnius, Lithuania.

Abstract

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. The chromosomal aberration was defined by chromosome microarray analysis, which revealed two deletions at 10pter (3.68 Mb) and 10qter (4.26 Mb). The clinical features are very similar to those reported in other clinical cases with ring chromosome 10, excluding bronchial asthma, which has not been previously reported in individuals with ring chromosome 10.

KEYWORDS:

Array-CGH; Bronchial asthma; Dysmorphic features; Ring chromosome 10

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