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.
Guilherme
Roberta Santos
RS
Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
de Freitas Ayres Meloni
Vera
V
Sodré
Claudete Palmer
CP
Christofolini
Denise Maria
DM
Pellegrino
Renata
R
de Mello
Claudia Berlim
CB
Conlin
Laura Kathleen
LK
Hutchinson
Anne Lawlor
AL
Spinner
Nancy Bettina
NB
Brunoni
Decio
D
Kulikowski
Leslie Domenici
LD
Melaragno
Maria Isabel
MI
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