Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction.

Abstract

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.

• Authors: T Eggermann, M M Nöthen, B Eiben, D Hofmann, K Hinkel, R Fimmers, G Schwanitz
• Journal: Human genetics (Hum Genet) Vol. 97 Issue 2 Pg. 218-23 (Feb 1996) ISSN: 0340-6717 [Print] Germany
• PMID: 8566957 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers

Topics

• Adult
• Base Sequence
• Chromosomes, Human, Pair 18
• Female
• Fetus
• Genetic Markers
• Humans
• Infant, Newborn
• Male
• Maternal Age
• Meiosis
• Molecular Sequence Data
• Nondisjunction, Genetic
• Paternal Age
• Polymerase Chain Reaction (methods)
• Repetitive Sequences, Nucleic Acid (genetics)
• Retrospective Studies
• Syndrome
• Trisomy