Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.
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.
Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
Roberta Santos
RS
Guilherme
Vera
V
de Freitas Ayres Meloni
Claudete Palmer
CP
Sodré
Denise Maria
DM
Christofolini
Renata
R
Pellegrino
Claudia Berlim
CB
de Mello
Laura Kathleen
LK
Conlin
Anne Lawlor
AL
Hutchinson
Nancy Bettina
NB
Spinner
Decio
D
Brunoni
Leslie Domenici
LD
Kulikowski
Maria Isabel
MI
Melaragno
D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D012303:Ring Chromosomes; D055815:Young Adult