Τίτλος:
35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and
Literature Review of the Ring Syndrome
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Cote 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 Cote 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. (C) 2015 S. Karger AG, Basel
Συγγραφείς:
Sarri, Catherine
Douzgou, Sofia
Kontos, Haris and
Anagnostopoulou, Katherine
Tumer, Zeynep
Grigoriadou, Maria and
Petersen, Michael B.
Kokotas, Haris
Merou, Konstantina and
Pandelia, Efi
Giouroukou, Elena
Papanikolaou, Katerina
Cote,
Gilbert B.
Gyftodimou, Yolanda
Περιοδικό:
Cytogenetic and Genome Research
Λέξεις-κλειδιά:
Array CGH; Follow-up; MLPA; Ring chromosome 2; Subtelomere FISH;
Terminal deletion 2q
