35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

Catherine Sarri; Sofia Douzgou; Haris Kontos; Katherine Anagnostopoulou; Zeynep Tümer; Maria Grigoriadou; Michael B Petersen; Haris Kokotas; Konstantina Merou; Efi Pandelia; Elena Giouroukou; Katerina Papanikolaou; Gilbert B Côté; Yolanda Gyftodimou

doi:10.1159/000382046

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

Catherine Sarri, Sofia Douzgou, Haris Kontos, Katherine Anagnostopoulou, Zeynep Tümer, Maria Grigoriadou, Michael B Petersen, Haris Kokotas, Konstantina Merou, Efi Pandelia, Elena Giouroukou, Katerina Papanikolaou, Gilbert B Côté, Yolanda Gyftodimou

Department of Clinical Medicine

1 Citation (Scopus)

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 analysis. A terminal deletion (q37.3qter) of maternal origin of the long arm of the ring chromosome 2 was detected and confirmed by all the above-mentioned methods. Ring chromosome 2 cases are exceedingly rare. Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis.

Original language	English
Journal	Cytogenetic and Genome Research
Volume	145
Issue number	1
Pages (from-to)	6-13
Number of pages	8
ISSN	1424-8581
DOIs	https://doi.org/10.1159/000382046
Publication status	Published - 23 Jun 2015

Keywords

Adult
Chromosome Deletion
Chromosomes, Human, Pair 2
Comparative Genomic Hybridization
Female
Follow-Up Studies
Growth Disorders
Hand Deformities, Congenital
Humans
Intellectual Disability
Ring Chromosomes

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10.1159/000382046

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Sarri, C., Douzgou, S., Kontos, H., Anagnostopoulou, K., Tümer, Z., Grigoriadou, M., Petersen, M. B., Kokotas, H., Merou, K., Pandelia, E., Giouroukou, E., Papanikolaou, K., Côté, G. B., & Gyftodimou, Y. (2015). 35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome. Cytogenetic and Genome Research, 145(1), 6-13. https://doi.org/10.1159/000382046

Sarri, C, Douzgou, S, Kontos, H, Anagnostopoulou, K, Tümer, Z, Grigoriadou, M, Petersen, MB, Kokotas, H, Merou, K, Pandelia, E, Giouroukou, E, Papanikolaou, K, Côté, GB & Gyftodimou, Y 2015, '35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome', Cytogenetic and Genome Research, vol. 145, no. 1, pp. 6-13. https://doi.org/10.1159/000382046

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abstract = "C{\^o}t{\'e} 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 C{\^o}t{\'e} et al. [1981], and we characterized it by array CGH, polymorphic markers as well as subtelomere MLPA and FISH analysis. A terminal deletion (q37.3qter) of maternal origin of the long arm of the ring chromosome 2 was detected and confirmed by all the above-mentioned methods. Ring chromosome 2 cases are exceedingly rare. Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis.",

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AU - Anagnostopoulou, Katherine

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AU - Grigoriadou, Maria

AU - Petersen, Michael B

AU - Kokotas, Haris

AU - Merou, Konstantina

AU - Pandelia, Efi

AU - Giouroukou, Elena

AU - Papanikolaou, Katerina

AU - Côté, Gilbert B

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AB - 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 analysis. A terminal deletion (q37.3qter) of maternal origin of the long arm of the ring chromosome 2 was detected and confirmed by all the above-mentioned methods. Ring chromosome 2 cases are exceedingly rare. Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis.

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KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 2

KW - Comparative Genomic Hybridization

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KW - Follow-Up Studies

KW - Growth Disorders

KW - Hand Deformities, Congenital

KW - Humans

KW - Intellectual Disability

KW - Ring Chromosomes

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DO - 10.1159/000382046

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JF - Cytogenetic and Genome Research

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ER -

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

Abstract

Keywords

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