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Cytogenetic and molecular evaluation and 20‐year follow‐up of a patient with ring chromosome 14
Author(s) -
Guilherme Roberta Santos,
de Freitas Ayres Meloni Vera,
Sodré Claudete Palmer,
Christofolini Denise Maria,
Pellegrino Renata,
de Mello Claudia Berlim,
Conlin Laura Kathleen,
Hutchinson Anne Lawlor,
Spinner Nancy Bettina,
Brui Decio,
Kulikowski Leslie Domenici,
Melaragno Maria Isabel
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33689
Subject(s) - ring chromosome , multiplex ligation dependent probe amplification , biology , genetics , chromosome , fluorescence in situ hybridization , ring (chemistry) , chromosome 15 , chromosome 22 , chromosome 21 , gene , microbiology and biotechnology , karyotype , exon , chemistry , organic chemistry
We present a 20‐year follow‐up on a patient with a ring chromosome 14. The ring chromosome was studied by fluorescence in‐situ hybridization (FISH), multiplex‐ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromosome 14 were detected, although the telomeric repeat sequence was absent from the ring chromosome. The patient had skeletal abnormalities, and susceptibility to infections, as well as seizures and retinal pigmentation, which are commonly found in individuals with a ring 14. Our patient corroborates the idea that even when no genes are lost during ring formation, a complete ring chromosome can produce phenotypic alterations, which presumably result from ring instability or gene silencing due to the new chromosomal architecture. © 2010 Wiley‐Liss, Inc.