Abstract:Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is involved. The phenotype of this ‘general ring syndrome' consists of growth failure without malformations, few or no minor anomalies, and mild to moderate mental retardation. We reconsidered the ring chromosome 2 case previously published by Côté et al. [1981], and we characterized it by array CGH, polymorphic markers as well as subtelomere MLPA and FISH … Show more
“… 97 A 35-year follow up in a patient with an RC 2 updated a terminal deletion and revealed that the patient with ring syndrome features of severe growth failure and moderate intellectual disability could survive to adulthood without any new phenotypic data. 98 …”
Section: Current Understanding Of Constitutional Rcsmentioning
“… 97 A 35-year follow up in a patient with an RC 2 updated a terminal deletion and revealed that the patient with ring syndrome features of severe growth failure and moderate intellectual disability could survive to adulthood without any new phenotypic data. 98 …”
Section: Current Understanding Of Constitutional Rcsmentioning
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