Human Molecular Genetics, Vol 7, 1221-1227, Copyright © 1998 by Oxford University Press
AR Savage, MB Petersen, D Pettay, L Taft, K Allran, SB Freeman, G Karadima, D Avramopoulos, C Torfs, M Mikkelsen, TJ Hassold and SL Sherman
Paternal non-disjunction of chromosome 21 accounts for 5-10% of Down
syndrome cases, therefore, relative to the maternally derived cases, little
is known about paternally derived trisomy 21. We present the first analysis
of recombination and non-disjunction for a large paternally derived
population of free trisomy 21 conceptuses ( n = 67). Unlike maternal cases
where the ratio of meiosis I (MI) to meiosis II (MII) errors is 3:1, a near
1:1 ratio exists among paternal cases, with a slight excess of MII errors.
We found no paternal age effect for the overall population nor when
classifying cases according to stage of non- disjunction error. Among 22 MI
cases, only five had an observable recombinant event. This differs
significantly from the 11 expected events ( P < 0.02, Fisher's exact),
suggesting reduced recombination along the non-disjoined chromosomes 21
involved in paternal MI non- disjunction. No difference in recombination
was detected among 27 paternal MII cases as compared with controls.
However, cases exhibited a slight increase in the frequency of proximal and
medial exchange when compared with controls (0.37 versus 0.28,
respectively). Lastly, this study confirmed previous reports of excess male
probands among paternally derived trisomy 21 cases. However, we report
evidence suggesting an MII stage-specific sex ratio disturbance where 2.5
male probands were found for each female proband. Classification of MII
cases based on the position of the exchange event suggested that the
proband sex ratio disturbance was restricted to non-telomeric exchange
cases. Based on these findings, we propose new models to explain the
association between paternally derived trisomy 21 and excessive male
probands.
ARTICLES
Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans
Department of Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
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