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

Institut for Klinisk Medicin

1 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Cytogenetic and Genome Research
Vol/bind	145
Udgave nummer	1
Sider (fra-til)	6-13
Antal sider	8
ISSN	1424-8581
DOI	https://doi.org/10.1159/000382046
Status	Udgivet - 23 jun. 2015

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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, bind 145, nr. 1, s. 6-13. https://doi.org/10.1159/000382046

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

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.",

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",

author = "Catherine Sarri and Sofia Douzgou and Haris Kontos and Katherine Anagnostopoulou and Zeynep T{\"u}mer and Maria Grigoriadou and Petersen, {Michael B} and Haris Kokotas and Konstantina Merou and Efi Pandelia and Elena Giouroukou and Katerina Papanikolaou and C{\^o}t{\'e}, {Gilbert B} and Yolanda Gyftodimou",

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doi = "10.1159/000382046",

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journal = "Cytogenetic and Genome Research",

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T1 - 35-Year Follow-Up of a Case of Ring Chromosome 2

T2 - Array-CGH Analysis and Literature Review of the Ring Syndrome

AU - Sarri, Catherine

AU - Douzgou, Sofia

AU - Kontos, Haris

AU - Anagnostopoulou, Katherine

AU - Tümer, Zeynep

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

AU - Gyftodimou, Yolanda

PY - 2015/6/23

Y1 - 2015/6/23

N2 - 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.

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.

KW - Adult

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 2

KW - Comparative Genomic Hybridization

KW - Female

KW - Follow-Up Studies

KW - Growth Disorders

KW - Hand Deformities, Congenital

KW - Humans

KW - Intellectual Disability

KW - Ring Chromosomes

U2 - 10.1159/000382046

DO - 10.1159/000382046

M3 - Journal article

C2 - 25997743

SN - 1424-8581

VL - 145

SP - 6

EP - 13

JO - Cytogenetic and Genome Research

JF - Cytogenetic and Genome Research

IS - 1

ER -

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

Abstract

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