35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome
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35-Year Follow-Up of a Case of Ring Chromosome 2 : Array-CGH Analysis and Literature Review of the Ring Syndrome. / Sarri, Catherine; Douzgou, Sofia; Kontos, Haris; Anagnostopoulou, Katherine; Tümer, Zeynep; Grigoriadou, Maria; Petersen, Michael B; Kokotas, Haris; Merou, Konstantina; Pandelia, Efi; Giouroukou, Elena; Papanikolaou, Katerina; Côté, Gilbert B; Gyftodimou, Yolanda.
I: Cytogenetic and Genome Research, Bind 145, Nr. 1, 2015, s. 6-13.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
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
N1 - © 2015 S. Karger AG, Basel.
PY - 2015
Y1 - 2015
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
VL - 145
SP - 6
EP - 13
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
SN - 1424-8581
IS - 1
ER -
ID: 161727771