Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14

Author(s):Show less -

Guilherme, Roberta Santos ^[1] ; Ayres Meloni, Vera de Freitas ^[1] ; Sodre, Claudete Palmer ^[1] ; Christofolini, Denise Maria ^[1] ; Pellegrino, Renata ^[2] ; de Mello, Claudia Berlim ^[2] ; Conlin, Laura Kathleen ^{[3, 4]} ; Hutchinson, Anne Lawlor ^{[3, 4]} ; Spinner, Nancy Bettina ^{[3, 4]} ; Brunoni, Decio ^[1] ; Kulikowski, Leslie Domenici ^{[1, 5]} ; Melaragno, Maria Isabel ^[1]

Affiliation

^[1] Univ Fed Sao Paulo, Dept Morphol & Genet, BR-04023900 Sao Paulo - Brazil

^[2] Univ Fed Sao Paulo, Dept Psychobiol, BR-04023900 Sao Paulo - Brazil

^[3] Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 - USA

^[4] Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 - USA

^[5] Univ Sao Paulo, Sch Med, LIM 03, Dept Pathol, Sao Paulo - Brazil

• Document type: Journal article
• Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 152A, n. 11, p. 2865-2869, NOV 2010.
• Web of Science Citations: 10

Abstract

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. (C) 2010 Wiley-Liss, Inc. (AU)