Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.

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.

• Authors: Roberta Santos Guilherme, Vera de Freitas Ayres Meloni, Claudete Palmer Sodré, Denise Maria Christofolini, Renata Pellegrino, Claudia Berlim de Mello, Laura Kathleen Conlin, Anne Lawlor Hutchinson, Nancy Bettina Spinner, Decio Brunoni, Leslie Domenici Kulikowski, Maria Isabel Melaragno
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 152A Issue 11 Pg. 2865-9 (Nov 2010) ISSN: 1552-4833 [Electronic] United States
• PMID: 20979193 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2010 Wiley-Liss, Inc.

Topics

• Child
• Child, Preschool
• Chromosome Banding
• Chromosomes, Human, Pair 14 (genetics)
• Cytogenetic Analysis
• Female
• Follow-Up Studies
• Humans
• Infant
• Infant, Newborn
• Karyotyping
• Male
• Pregnancy
• Ring Chromosomes
• Young Adult