Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13.
We have used molecular and cytogenetic methods to study the derivation of a ring chromosome 13 in the fetus of a woman mosaic for a translocation chromosome 13. DNA analysis showed that the translocation chromosome was a Robertsonian translocation, not an isochromosome. We suggest that the ring is derived from the translocation chromosome by breaks in both long arms and subsequent reunion, r(13) (q12q14).
Stetten
G
G
Department of Gynecology, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Tuck-Muller
C M
CM
Blakemore
K J
KJ
Wong
C
C
Kazazian
H H
HH
Antonarakis
S E
SE
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005317:Fetal Growth Retardation / Q000235:genetics / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D012303:Ring Chromosomes; D014178:Translocation, Genetic / Q000235:genetics*
D015342:DNA Probes; D004247:DNA