Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes.

Osamu Shimokawa; Naoki Harada; Noriko Miyake; Kanako Satoh; Takeshi Mizuguchi; Norio Niikawa; Naomichi Matsumoto

doi:10.1002/ajmg.a.31421

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PubMed · 16906550

Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes.

Osamu Shimokawa·Naoki Harada·Noriko Miyake·Kanako Satoh·Takeshi Mizuguchi·Norio Niikawa·Naomichi Matsumoto

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Abstract

Array comparative genomic hybridization (array CGH) analysis was conducted in chorionic villous samples from 20 first-trimester spontaneous abortions with G-banding normal chromosomes. A microarray, containing 2,173 BAC clones and covering the whole genome with a 1.5-Mb resolution, was constructed and used in the analysis. Two deletions were identified: a 1.4-Mb deletion at 3p26.2-p26.3 and a 13.7-Mb deletion at 13q32.3-qter. Reexamination of chromosome preparations from the sample with the 13.7-Mb deletion documented a mixture of cells with the 13q- chromosome and those with 46,XX chromosomes, the latter of which are likely to have been derived from contaminating decidual cells. This left the 1.4-Mb 3p deletion as the only instance with submicroscopic imbalance detected, giving a frequency of 1 in 19 (5%) G-banding normal abortions.

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Abortion, Spontaneous Chromosome Aberrations Chromosome Deletion Chromosomes, Artificial, Bacterial Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 3 Female Humans Karyotyping Nucleic Acid Hybridization Oligonucleotide Array Sequence Analysis Pregnancy Pregnancy Trimester, First Journal Article Research Support, Non-U.S. Gov't

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Osamu Shimokawa, Naoki Harada, Noriko Miyake, Kanako Satoh, Takeshi Mizuguchi, Norio Niikawa, Naomichi Matsumoto. 2006-09-15. Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes.. https://doi.org/10.1002/ajmg.a.31421

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