Ring chromosome 6: clinical and cytogenetic behaviour.
Several investigators have reported in vitro instability of ring chromosomes. We have evaluated the clinical and cytogenetic course over 8 years in a patient with ring chromosome 6 and found stability in this ring chromosome. The different cell lines remained constant, and the phenotype showed little variation. This syndrome seems to be related to the deletion in the ring rather than to its instability.
Paz-y-Miño
C
C
Laboratory de Genética, Facultad de Medicina, Universidad Central del Ecuador, Quito.
Benítez
J
J
Ayuso
C
C
Sánchez-Cascos
A
A
D000293:Adolescent; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008831:Microcephaly; D009030:Mosaicism / Q000235:genetics; D012303:Ring Chromosomes; D012640:Seizures