TY - JOUR
T1 - Paternal nondisjunction in trisomy 21
T2 - Excess of male patients
AU - Patersen, Michael B.
AU - Antonarakis, Stylianos E.
AU - Hassold, Terry J.
AU - Freeman, Sallle B.
AU - Sherman, Stephanie L.
AU - Avramopoulos, Dimitrios
AU - Mikkelsen, Margareta
N1 - Funding Information:
This work was supported by grants from Kirstine-Fonden, Lily Benthine Lunds Fond, Else og Mogens Wedell-Wedellsborgs Fond, Hajmosegard-legatet, Gerda og Aage Haensch's Fond, Bradrene Hartmanns Fond, Forskningsfonden vedr. medfodte sygdomme, and the Danish Human Genome Research Programme (to M.B.P. and M.M.), NTH grams (to S.E.A.), and NIH contract (to TJ.H., S.L.S. and S.B.F.). We also express our thanks to an anonymous reviewer for suggesting one of the models proposed to explain the sex ratio distortion in paternal trisomy 21.
PY - 1993/10
Y1 - 1993/10
N2 - Paternal nondisjunction accounts for approximately 5% of cases of trisomy 21. We have studied 36 cases of free trisomy 21, in which the supernumerary chromosome was of paternal origin, with DNA markers in the pericentromeric region and along the long arm of chromosome 21. Fifteen of the paternal cases were consistent with melosis II errors, 8 with mitotic errors and only 7 with melosis I nondisjunction. This contrasts markedly with maternally derived trisomy 21, in which meiosis I errors predominate. An excess of males was observed in the melotic cases (21 maies:6 females), highly significantly different from a 1.06 ratio. A significant difference in mean maternal age was found between cases of paternal origin (28.1 years) and those of maternal origin (31.8 years, n=429). This indicates that the maternal age effect is confined to maternal nondisjunction.
AB - Paternal nondisjunction accounts for approximately 5% of cases of trisomy 21. We have studied 36 cases of free trisomy 21, in which the supernumerary chromosome was of paternal origin, with DNA markers in the pericentromeric region and along the long arm of chromosome 21. Fifteen of the paternal cases were consistent with melosis II errors, 8 with mitotic errors and only 7 with melosis I nondisjunction. This contrasts markedly with maternally derived trisomy 21, in which meiosis I errors predominate. An excess of males was observed in the melotic cases (21 maies:6 females), highly significantly different from a 1.06 ratio. A significant difference in mean maternal age was found between cases of paternal origin (28.1 years) and those of maternal origin (31.8 years, n=429). This indicates that the maternal age effect is confined to maternal nondisjunction.
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U2 - 10.1093/hmg/2.10.1691
DO - 10.1093/hmg/2.10.1691
M3 - Article
C2 - 8268923
AN - SCOPUS:0027379763
SN - 0964-6906
VL - 2
SP - 1691
EP - 1695
JO - Human molecular genetics
JF - Human molecular genetics
IS - 10
ER -