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Ring Chromosome 21: Characterization of DNA Sequences at Sites of Breakage and Reunion
Author(s) -
KAZAZIAN HAIG H.,
ANTONARAKIS STYLIANOS E.,
WONG CORINNE,
TRUSKO STEPHEN P.,
STETTEN GAIL,
OLIVER MARK,
POTTER MICHAEL J.,
GUSELLA JAMES F.,
WATKINS PAUL C.
Publication year - 1985
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1985.tb21481.x
Subject(s) - medical school , gerontology , medicine , medical genetics , genetics , biology , medical education , gene
We have presented studies of an unusual child with an r21 chromosome who lacks the phenotype of Down syndrome. We have sequenced the region of the breakpoint in the normal DNA fragment and have isolated the abnormal breakpoint fragment as a 7.5-kb EcoRI fragment. We have preliminary evidence localizing the breakpoint to a few hundred base pairs of 21q DNA. Since the child lacks the classical phenotype of Down syndrome, further studies of the DNA distal to the breakpoint on the long arm of chromosome 21 may help us to elucidate "genes" important to the phenotype of Down syndrome.