Molecular and clinical characterization of patients with a ring chromosome 11

Abstract Ring chromosomes are uncommon cytogenetic findings and are often associated with clinical features overlapping the phenotype of patients with terminal deletions of the corresponding chromosome. Most of the ring chromosomes arise sporadically and parental transmission is rarely observed. We...

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Bibliographic Details
Published in:European journal of medical genetics 2012-12, Vol.55 (12), p.708-714
Main Authors: Hansson, Kerstin B.M, Gijsbers, Antoinet C.J, Oostdijk, Wilma, Rehbock, Jan J.B, de Snoo, Femke, Ruivenkamp, Claudia A.L, Kant, Sarina G
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Adolescent
Adult
Café au lait spots
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 11
Comparative Genomic Hybridization
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Medical Education
Polymorphism, Single Nucleotide
Ring chromosome 11
Ring Chromosomes
SNP array
Young Adult
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Summary:Abstract Ring chromosomes are uncommon cytogenetic findings and are often associated with clinical features overlapping the phenotype of patients with terminal deletions of the corresponding chromosome. Most of the ring chromosomes arise sporadically and parental transmission is rarely observed. We report five patients carrying a ring chromosome 11, with three of the patients belonging to the same family. SNP array analysis was performed to characterize the different ring chromosomes and the clinical phenotypes were compared with previously reported patients with ring chromosome 11.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2012.08.004