TY - JOUR
T1 - Evidence for reduced recombination on the nondisjoined chromosomes 21 in down syndrome
AU - Warren, Andrew C.
AU - Chakravarti, Aravinda
AU - Wong, Corinne
AU - Slaugenhaupt, Susan A.
AU - Halloran, Susan L.
AU - Watkins, Paul C.
AU - Metaxotou, Caterina
AU - Antonarakis, Stylianos E.
PY - 1987
Y1 - 1987
N2 - Trisomy 21 usually results from nondisjunction during meiosis I. In order to determine whether nondisjunction results from failure of normal chromosome pairing or premature impairing, recombination frequencies were estimated between DNA polymorphic markers on the long arm of chromosome 21 in families containing one individual with trisomy 21. The recombination frequencies on chromosomes 21 that had undergone nondisjunction were then compared to those on chromosomes 21 that had disjoined normally. The data indicate that recombination is reduced between DNA markers on nondisjoined chromosomes 21. These results are consistent with the hypothesis that reduced chiasma formation predisposes to nondisjunction, resulting in trisomy 21 in humans.
AB - Trisomy 21 usually results from nondisjunction during meiosis I. In order to determine whether nondisjunction results from failure of normal chromosome pairing or premature impairing, recombination frequencies were estimated between DNA polymorphic markers on the long arm of chromosome 21 in families containing one individual with trisomy 21. The recombination frequencies on chromosomes 21 that had undergone nondisjunction were then compared to those on chromosomes 21 that had disjoined normally. The data indicate that recombination is reduced between DNA markers on nondisjoined chromosomes 21. These results are consistent with the hypothesis that reduced chiasma formation predisposes to nondisjunction, resulting in trisomy 21 in humans.
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U2 - 10.1126/science.2955519
DO - 10.1126/science.2955519
M3 - Article
C2 - 2955519
AN - SCOPUS:0023236677
SN - 0036-8075
VL - 237
SP - 652
EP - 654
JO - Science
JF - Science
IS - 4815
ER -