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

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 de...

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Veröffentlicht in:	Molecular cytogenetics 2015-04, Vol.8 (1), p.29, Article 29
Hauptverfasser:	Čiuladaitė, Živilė, Burnytė, Birutė, Vansevičiūtė, Danutė, Dagytė, Evelina, Kučinskas, Vaidutis, Utkus, Algirdas
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Asthma Care and treatment Case Report Case studies Cytogenetics Diagnosis DNA microarrays Genetic aspects Genetic research
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container_title	Molecular cytogenetics
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creator	Čiuladaitė, Živilė Burnytė, Birutė Vansevičiūtė, Danutė Dagytė, Evelina Kučinskas, Vaidutis Utkus, Algirdas
description	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.
doi_str_mv	10.1186/s13039-015-0124-9
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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). 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subjects	Analysis Asthma Care and treatment Case Report Case studies Cytogenetics Diagnosis DNA microarrays Genetic aspects Genetic research
title	Clinical, cytogenetic and molecular study of a case of ring chromosome 10
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