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We investigated the parent and cell division of origin of the extra chromosome 18 in 62 aneuploids with a free trisomy 18 by using chromosome-18-specific pericentromeric short-sequence repeats. In 46 cases, DNA of patients was recovered from archival specimens, such as paraffin-embedded tissues and fixed chromosomal spreads. In 56 families, the supernumerary chromosome was maternal in origin; in six families, it was paternal. Among the 56 maternally derived aneuploids, we could exclude a postzygotic mitotic error in 52 cases. Among those in which the nondisjunction was attributable to an error at meiosis, 11 were the result of a meiosis I nondisjunction and 17 were caused by a meiosis II error. This result differs markedly from findings in acrocentric chromosomes where nondisjunction at maternal meiosis I predominates. Among the six paternally derived cases, two originated from a meiotic error, indicating that a nondisjunction in paternal meiosis is not as rare as previously suggested.
T Eggermann, and
M M Nöthen, and
B Eiben, and
D Hofmann, and
K Hinkel, and
R Fimmers, and
G Schwanitz
March 2022,
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine],
T Eggermann, and
M M Nöthen, and
B Eiben, and
D Hofmann, and
K Hinkel, and
R Fimmers, and
G Schwanitz
October 1989,
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T Eggermann, and
M M Nöthen, and
B Eiben, and
D Hofmann, and
K Hinkel, and
R Fimmers, and
G Schwanitz
August 1993,
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T Eggermann, and
M M Nöthen, and
B Eiben, and
D Hofmann, and
K Hinkel, and
R Fimmers, and
G Schwanitz
March 1995,
American journal of human genetics,
T Eggermann, and
M M Nöthen, and
B Eiben, and
D Hofmann, and
K Hinkel, and
R Fimmers, and
G Schwanitz
January 1988,
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T Eggermann, and
M M Nöthen, and
B Eiben, and
D Hofmann, and
K Hinkel, and
R Fimmers, and
G Schwanitz
September 1983,
American journal of medical genetics,
T Eggermann, and
M M Nöthen, and
B Eiben, and
D Hofmann, and
K Hinkel, and
R Fimmers, and
G Schwanitz
December 1992,
American journal of human genetics,
T Eggermann, and
M M Nöthen, and
B Eiben, and
D Hofmann, and
K Hinkel, and
R Fimmers, and
G Schwanitz
January 1998,
European journal of human genetics : EJHG,
T Eggermann, and
M M Nöthen, and
B Eiben, and
D Hofmann, and
K Hinkel, and
R Fimmers, and
G Schwanitz
January 2000,
Cytogenetics and cell genetics,
T Eggermann, and
M M Nöthen, and
B Eiben, and
D Hofmann, and
K Hinkel, and
R Fimmers, and
G Schwanitz
October 2007,
American journal of medical genetics. Part A,
